Skip to main content
SpringerLink
Log in

Störungen im Bereich des Hypothalamus und der Hypophyse

  • Chapter
Andrologie

Zusammenfassung

Beim männlichen Geschlecht wird die Prävalenz von Kallmann-Syndrom und IHH auf etwa 1∶10.000 geschätzt. Männliche Patienten überwiegen gegenüber weiblichen im Zahlenverhältnis von etwa 4∶1 (Seminara et al. 1998). Gegenwärtig kann der genetische Defekt für das Kallmann-Syndrom und den IHH bei der Hälfte der familiären Fälle und bei ca. 10% der sporadischen Fälle nachgewiesen werden. Die bisher gebräuchliche Bezeichnung „Idiopathischer Hypogonadotroper Hypogonadismus“, die das Unwissen über die Ursache der Erkrankung reflektiert, erscheint daher heute überholt. Das Akronym IHH sollte daher für „Isolierter Hypogonadotroper Hypogonadismus“ stehen, und somit die isolierte Störung der Gonadotropinsekretion bzw.-wirkung als einzigen Defekt im Gegensatz zum Kallmann-Syndrom kennzeichnen.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 219.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Albanese A, Stanhope R (1994) Pathogenetic mechanisms and management priorities in constitutional delay. In: Savage MO, Bourguignon JP, Grossman AB (eds) Frontiers in paediatric neuroendocrinology. Blackwell Scientific Publications, Oxford, pp 33–37

    Google Scholar 

  • Angulo MA, Castro-Magna M, Lamerson M, Arguello R, Accacha S, Khan A (2007) Final adult height in children with Prader-Willi syndrome with and without growth hormone treatment. Am J Med Genet 143A:1456–1461

    Article  CAS  PubMed  Google Scholar 

  • Baraitser M (1997) Cerebellar ataxia. In: The genetics of neurological disorders. 3rd ed. Oxford University Press, Oxford, pp 146–165

    Google Scholar 

  • Barrio R, de Luis D, Alonso M, Lamas A, Moreno JC (1999) Induction of puberty with human chorionic gonadotropin and follicle-stimulating hormone in adolescent males with hypogonadotropic hypogonadism. Fertil Steril 71:244–248

    Article  CAS  PubMed  Google Scholar 

  • Bassett JH, O’Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV (1999) Novel DAX-1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Clin Endocrinol 50:69–75

    Article  CAS  Google Scholar 

  • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437–446

    CAS  PubMed  Google Scholar 

  • Bédécarrats GY, Kaiser UB. (2007) Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. Semin Reprod Med 25:368–378

    Article  PubMed  CAS  Google Scholar 

  • Berezin M, Karasik A (1995) Familial prolactinoma. Clin Endocrinol 42:483–486

    Article  CAS  Google Scholar 

  • Bevan JS, Webster J, Burke C, Scanlon MF (1992) Dopamine agonists and pituitary tumor shrinkage. Endocr Rev 13:220–240

    CAS  PubMed  Google Scholar 

  • Biro FM, Lucky AW, Huster GA, Morrison JA (1995) Pubertal staging in boys. J Pediatr 127:100–102

    Article  CAS  PubMed  Google Scholar 

  • Bouloux P, Warne DW, Loumaye E; FSH Study Group in Men’s Infertility (2002) Efficacy and safety of recombinant human follicle-stimulating hormone in men with isolated hypogonadotropic hypogonadism. Fertil Steril 77:270–273

    Article  PubMed  Google Scholar 

  • Brown DC, Butler GE, Kelnar CJ, Wu FC (1995) A double blind, placebo controlled study of the effects of low dose testosterone undecanoate on the growth of small for age, prepubertal boys. Arch Dis Child 73:131–135

    Article  CAS  PubMed  Google Scholar 

  • Budarf ML, Emanuel BS (1997) Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders? Hum Molec Genet 6:1657–1665

    Article  CAS  PubMed  Google Scholar 

  • Büchter D, Behre HM, Kliesch S, Nieschlag E (1998) Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases. Eur J Endocrinol 139:298–303

    Article  PubMed  Google Scholar 

  • Burghes AH, Vaessin HE, de La Chapelle A (2001) The land between Mendelian and multifactorial inheritance. Science 293:2213–2214

    Article  CAS  PubMed  Google Scholar 

  • Burgues S, Calderon MD (1997) Subcutaneous self-administration of highly purified follicle stimulating hormone and human chorionic gonadotrophin for the treatment of male hypogonadotrophic hypogonadism. Spanish Collaborative Group on Male Hypogonadotropic Hypogonadism. Hum Reprod 12:980–986

    Article  CAS  PubMed  Google Scholar 

  • Burman P, Ritzen EM, Lindgren C (2001) Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev 22:787–799

    Article  CAS  PubMed  Google Scholar 

  • Butenandt O, Bechtold S, Meidert A (2005) Final height in patients with constitutional delay of growth and development from tall statured families. J Pediatr Endocrinol Metab 18:165–169

    PubMed  Google Scholar 

  • Butler JV, Whittington JE, Holland AJ, Boer H, Clark D, Webb T (2002) Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 44:248–255

    Article  CAS  PubMed  Google Scholar 

  • Cacciari E, Salardi S, Lazzari R (1983) Short stature and celiac disease: a relationship to consider even in patients with no gastrointestinal tract symptoms. J Pediatr 103:708–711

    Article  CAS  PubMed  Google Scholar 

  • Cannavo S, Curto L, Squadrito S, Almoto B, Vieni A, Trimarchi F (1999) Cabergoline: a first-choice treatment in patients with previously untreated prolactin-secreting pituitary adenoma. J Endocrinol Invest 22:354–359

    CAS  PubMed  Google Scholar 

  • Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P (1999a). Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. J Clin Endocrinol Metab 84:3563–3569

    Article  CAS  PubMed  Google Scholar 

  • Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P, Kottler M-L (1999b) Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. J Clin Endocrinol Metab 84:990–996

    Article  CAS  PubMed  Google Scholar 

  • Casanueva FF, Molitch ME, Schlechte JA, Abs R, Bonert V, Bronstein MD, Brue T, Cappabianca P, Colao A, Fahlbusch R, Fideleff H, Hadani M, Kelly P, Kleinberg D, Laws E, Marek J, Scanlon M, Sobrinho LG, Wass JA, Giustina A (2006) Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas. Clin Endocrinol (Oxf) 65:265–273

    Article  Google Scholar 

  • Cassidy SB (1997) Prader-Willi syndrome. J Med Genet 34:917–923

    Article  CAS  PubMed  Google Scholar 

  • chaidarun SS, Klibanski A (2002) Gonadotropinomas. Semin Reprod Med 20:339–348

    Article  PubMed  Google Scholar 

  • Colao A, Di Sarno A, Cappabianca P, Di Somma C, Pivonello R, Lombardi G (2003) Withdrawal of long-term cabergoline therapy for tumoral and nontumoral hyperprolactinemia. N Engl J Med 349:2023–2033

    Article  CAS  PubMed  Google Scholar 

  • Colao A, Galderisi M, Di Sarno A, Pardo M, Gaccione M, D’Andrea M, Guerra E, Pivonello R, Lerro G, Lombardi G (2008) Increased prevalence of tricuspid regurgitation in patients with prolactinomas chronically treated with cabergoline. J Clin Endocrinol Metab 93:3777–3784

    Article  CAS  PubMed  Google Scholar 

  • Constine LS, Woolf PD, Cann D, Mick G, McCormick K, Raubertas RF, Rubin P (1993) Hypothalamic-pituitary dysfunction after radiation for brain tumors. N Engl J Med 328:87–94

    Article  CAS  PubMed  Google Scholar 

  • Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, Gargantini L, Salvatoni A, Tonini G, Trifiro G, Livieri C, Genetic obesity study group of Italian Society of Pediatric Endocrinology and diabetology (SIEDP) (2003) Hypogonadism and pubertal development in Prader-Willi-syndrome. Eur J Pediatr 162:327–333

    CAS  PubMed  Google Scholar 

  • Deladoey J, Flück C, Büyükgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE (1999) “Hot spot” in the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 84:1645–1650

    Article  CAS  PubMed  Google Scholar 

  • De Luca F, Argente J, Cavallo L, Crowne E, Delemarre-Van de Waal HA, De Sanctis C, Di Maio S, Norjavaara E, Oostdijk W, Severi F, Tonini G, Trifiro G, Voorhoeve PG, Wu F, International Workshop on Management of Puberty for Optimum Auxological Results (2001) Management of Puberty in constitutional delay of growth and puberty. J Pediatr Endocrinol Metab 14(Suppl 2):953–957

    PubMed  Google Scholar 

  • De Michele G, Filla A, Striano S, Rimoldi M, Campanella G (1993) Heterogenous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes’ type ataxia). Clin Neurol Neurosurg 95:23–28

    Article  PubMed  Google Scholar 

  • Depenbusch M, von Eckardstein S, Simoni M, Nieschlag E (2002) Maintenance of spermatogenesis in hypogonadotropic hypogondal men with hCG alone. Eur J Endocrinol 147:617–624

    Article  CAS  PubMed  Google Scholar 

  • De Rosa M, Colao A, Di Sarno A, Ferone D, Landi ML, Zarrilli S, Paesano L, Merola B, Lombardi G (1998) Cabergoline treatment rapidly improves gonadal function in hyperprolactinemic males: a comparison with bromocriptine. Eur J Endocrinol 138:286–293

    Article  PubMed  Google Scholar 

  • De Roux N. (2005) Isolated gonadotropic deficiency with and without anosmia; a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. Horm Res. 64 Suppl 2:48–55

    Article  PubMed  CAS  Google Scholar 

  • Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A Zabel B, Horsthemke B (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163–170

    Article  CAS  PubMed  Google Scholar 

  • Dodé C, Hardelin JP (2004) Kallmann syndrome: fibroblast growth factor signaling insufficiency. J Mol Med 82:725–34

    Article  PubMed  CAS  Google Scholar 

  • Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP (2003) Loss-of-function mutations, in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463–465

    Article  PubMed  CAS  Google Scholar 

  • Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2:e175

    Article  PubMed  CAS  Google Scholar 

  • Eiholzer U, Whitman BY (2004) A comprehensive team approach to the management of patients with Prader-Willi syndrome. J Pediatr Endocrinol Metab 17:1153–1175

    CAS  PubMed  Google Scholar 

  • Eiholzer U, l’Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M (2006) Hypothalamic and gonadal components of hypognadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab 91:892–898

    Article  CAS  PubMed  Google Scholar 

  • Eiholzer U, Grieser J, Schlumpf M, l’Allemand D (2007) Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome. Horm Res 68:178–184

    Article  CAS  PubMed  Google Scholar 

  • European Metrodin HP Study Group (1998) Efficacy and safety of highly purified urinary follicle-stimulating hormone with human chorionic gonadotropin for treating men with isolated hypogonadotropic hypogonadism. Fertil Steril 70:256–262

    Article  Google Scholar 

  • Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N (2008) Decreased FGF8, signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 118:2822–2831

    Article  CAS  PubMed  Google Scholar 

  • Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP 1 gene mutation, resulting in the substitution of Arg → Cys at codon 120 (R120C). J Clin Endocrinol Metab 83:3727–3734

    Article  PubMed  Google Scholar 

  • Gillam MP, Molitch ME, Lombardi G, Colao A (2006) Advances in the treatment of prolactinomas. Endocr Rev 27:485–534

    Article  CAS  PubMed  Google Scholar 

  • Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B (1995) DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 32:88–92

    Article  CAS  PubMed  Google Scholar 

  • Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M, on behalf of speakers and contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS (2008) Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Eindorinol Metab 93:4183–4197

    Article  CAS  Google Scholar 

  • Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321:1002–1009

    Article  CAS  PubMed  Google Scholar 

  • Greulich WW, Pyle SI (1959) Radiographic atlas of skeletal development of the hand and wrist. 2nd ed, Stanford University Press, Stanford

    Google Scholar 

  • Gunay-Aygun M, Schwartz S, Hegger S, O’Riordan MA, Cassidy S (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:e92

    Article  CAS  PubMed  Google Scholar 

  • Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley MF, Jameson JL (1996) Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 98:1055–1062

    Article  CAS  PubMed  Google Scholar 

  • Herring N, Szmigielski C, Becher H, Karavitaki N, Wass JA (2009) Valvular heart disease and the use of cabergoline for the treatment of prolactinoma. Clin Endocrinol (Oxf) 70:104–108

    Article  Google Scholar 

  • Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993) Prader-Willi syndrome consensus diagnostic criteria. Pediatrics 91:398–402

    CAS  PubMed  Google Scholar 

  • Houchin LD, Rogol AD (1998) Androgen replacement in children with constitutional delay of puberty: the case for aggressive therapy. Bailliere Clin Endoc 12:427–440

    Article  CAS  Google Scholar 

  • Jaffe CA (2006) Clinically non-functioning pituitary adenoma. Pituitary 9:317–321

    Article  PubMed  Google Scholar 

  • Kaisermann KB, Nakamoto JM, Geffner ME, McCabe ER (1998) Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita. J Pediatr 133:300–302

    Article  Google Scholar 

  • Kallmann FJ, Schoenfeld WA, Barrera SE (1944) The genetic aspects of primary eunuchoidism. Amer J Ment Defic 48:203–236

    Google Scholar 

  • Karavitaki N, Thanabalasingham G, Shore HC, Trifanescu R, Ansorge O, Meston N, Turner HE, Wass JA (2006) Do the limits of serum prolactin in disconnection hyperprolactinaemia need re-definition? A study of 226 patients with histologically verified non-functioning pituitary macroadenoma. Clin Endocrinol (Oxf) 65:524–529

    Article  CAS  Google Scholar 

  • Kars M, Pereira AM, Bax JJ, Romijn JA (2008) Cabergoline and cardiac valve disease in prolactinoma patients: additional studies during long-term treatment are required. Eur J Endocrinol 159:363–367

    Article  CAS  PubMed  Google Scholar 

  • Kaspers S, Richter-Unruh A, Schmittmann-Ohters K, Hauffa BP (2004) Buserelin testing in 70 adolescents with delayed puberty. Horm Res 62 (Suppl 2): 80 (P2-282)

    Google Scholar 

  • Katsanis N, (2004) The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 13 Spec No 1:R65–71

    Article  CAS  PubMed  Google Scholar 

  • Kauschansky A, Dickerman Z, Phillip N, Weintrob N, Strich D (2002) Use of GnRH agonist and human chorionic gonadotrophin tests for differentiating constitutional delayed puberty from gonadotrophin deficiency in boys. Clin Endocrinol 56:603–607

    Article  CAS  Google Scholar 

  • Kelberman D, Dattani MT (2008) Septo-optic dysplasia-novel insights into the aetiology. Horm Res 69:257–265

    Article  CAS  PubMed  Google Scholar 

  • Kelch RP, Virdis R, Rappaport R, Greig F, Levine LS, New MI (1984) Congenital adrenal hypoplasia. Pediatr Adolesc Endocrinol 13:156–161

    Google Scholar 

  • Kelly BP, Paterson WF, Donaldson MD (2003) Final height outcome and value of height prediction in boys with constitutional delay in growth and adolescence treated with intramuscular testosterone 125 mg per month for 3 months. Clin Endocrinol 58:267–272

    Article  CAS  Google Scholar 

  • Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC (2008) Mutations in CHD7, Encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83:511–519

    Article  CAS  PubMed  Google Scholar 

  • Kletter GB, Gorski JL, Kelch RP (1991) Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab 2:123–128

    Article  Google Scholar 

  • Koeppen AH (1998) The hereditary ataxias. J Neuropathol Exp Neurol 57:531–543

    Article  CAS  PubMed  Google Scholar 

  • Krajewska-Siuda E, Malecka-Tendera E, Krajewski-Siuda A (2006) Are short boys with constitutional delay of growth and puberty candidates for rGH therapy according to FDA recommendations? Horm Res 65:192–196

    Article  CAS  PubMed  Google Scholar 

  • Lagerström-Fermér M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U (1997) X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Am J Hum Genet 60:910–916

    PubMed  Google Scholar 

  • Lalli E, Sassone-Corsi P (2003) DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol 17:1445–1453

    Article  CAS  PubMed  Google Scholar 

  • Largo RH, Prader A (1983) Pubertal development of Swiss boys. Helv Paediatr Acta 38:211–228

    CAS  PubMed  Google Scholar 

  • Lindgren AC, Lindberg A (2008) Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: experience from KIGS (Pfizer International Growth Database). Horm Res 70:182–187

    Article  CAS  PubMed  Google Scholar 

  • Liu L, Chaudhari N, Corle D, Sherins RJ (1988) Comparison of pulsatile subcutaneous gonadotropin-releasing hormone and exogenous gonadotropins in the treatment of men with isolated hypogonadotropic hypogonadism. Fertil Steril 49:302–308

    CAS  PubMed  Google Scholar 

  • Liu PY, Gebski VJ, Turner L, Conway AJ, Wishart SM, Handelsman DJ (2002) Predicting pregnancy and spermatogenesis by survival analysis during gonadotrophin treatment of gonadotrophin-deficient infertile men. Hum Reprod 17:625–633

    Article  PubMed  Google Scholar 

  • Lofrano-Porto A, Casulari LA, Nascimento PP, Giacomini L, Naves LA, da Motta LD, Layman LC (2008) Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation. Fertil Steril 90:1169–1174

    Article  PubMed  Google Scholar 

  • Lüdecke DK für die Expertengruppe der Arbeitsgemeinschaft Hypophyse (2003) Betreuung von Patienten mit hormoninaktiven Adenomen der Hypophyse. Med Klin 98:616–627

    Article  Google Scholar 

  • Mancini T, Casanueva FF, Giustina A. Hyperprolactinemia and prolactinomas (2008) Endocrinol Metab Clin North Am 37:67–99

    Article  CAS  PubMed  Google Scholar 

  • Mantovani G, Borgato S, Beck-Peccoz P, Romoli R, Borretta G, Persani L (2003) Isolated follicle-stimulating hormone (FSH) deficiency in a young man with normal virilization who did not have mutations in the FSHbeta gene. Fertil Steril 79:434–436

    Article  PubMed  Google Scholar 

  • Mehta A, Dattani MT (2008) Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract Res Clin Endocrinol Metab 22:191–206

    Article  CAS  PubMed  Google Scholar 

  • Merke DP, Tajima T, Baron J, Cutler GB (1999) Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 340:1248–1252

    Article  CAS  PubMed  Google Scholar 

  • Melmed S (2008) Update in pituitary disease. J Clin Endocrinol Metab 93:331–338

    Article  CAS  PubMed  Google Scholar 

  • Morison IM, Reeve AE (1998) A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Molec Genet 7:1599–1609

    Article  CAS  PubMed  Google Scholar 

  • Müller OA, Emons G, Fahlbusch F, Hensen J, Ranke MB, Stalla GK, Strasburger CJ (2003) Hypothalamus und Hypophyse. In: Deutsche Gesellschaft für Endokrinologie (ed) Rationelle Diagnostik und Therapie in Endokrinologie, Diabetologie und Stoffwechsel. 2. Aufl., Thieme, Stuttgart New York, pp 7–44

    Google Scholar 

  • Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, Schwarz HP, Kaplan JC, Camerino G, Meitinger T, Monaco AP (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:672–676

    Article  CAS  PubMed  Google Scholar 

  • Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD (1999) Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64:397–413

    Article  CAS  PubMed  Google Scholar 

  • Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki K, Fujieda K, Tajima T (2008) Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. Endocr J 55: 97–103

    Article  CAS  PubMed  Google Scholar 

  • Partsch C-J, Sippell WG (1989) Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm Metab Res 11:623–625

    Article  Google Scholar 

  • Partsch C-J, Hermanussen M, Sippell WG (1985) Differentiation of male hypogonadotropic hypogonadism and constitutional delay of puberty by pulsatile administration of gonadotropin-releasing hormone. J Clin Endocrinol Metab 60:1196–1203

    Article  CAS  PubMed  Google Scholar 

  • Partsch C-J, Hümmelink R, Sippell WG (1990) Reference ranges for lutropin and follitropin in the luliberin test in prepubertal and pubertal children using a monoclonal immunoradiometric assay. J Clin Chem Clin Biochem 28:49–52

    CAS  PubMed  Google Scholar 

  • Partsch C-J, Lämmer C, Gillesen-Kaesbach G, Pankau R (2000) Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 10 (Suppl B):S81–S85

    Article  PubMed  Google Scholar 

  • Pasqualini RQ, Burr GE (1950) Sindrome hypoandrogenico con gametogenesis conservada. Classification del la insufficiencia testicular. Rev Asoc Med Argent 64:6–19

    Google Scholar 

  • Peter M, Viemann M, Partsch C-J, Sippell WG (1998) Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis, and report on new points mutations of the DAX-1-Gene. J Clin Endocrinol Metab 83:2666–2674

    Article  CAS  PubMed  Google Scholar 

  • Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ (2001) The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneousreversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab 86:2470–2475

    Article  CAS  PubMed  Google Scholar 

  • Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr (2005) Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab 90:1317–1322

    Article  CAS  PubMed  Google Scholar 

  • Poyrazoglu S, Günöz H, Drendeliler F, Saka N, Bundak R, Bas F (2005) Constitutional delay of growth and puberty: from presentation to final height. J Pediatr Endocrinol Metab 18:171–179

    PubMed  Google Scholar 

  • Prader A, Labhart A, Willi H (1956) Ein Syndrom von Adipositas Kleinwuchs, Kryptorchismus und Oligophrenie nach myoatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wschr 86:1260–1261

    Google Scholar 

  • Quinton R, Barnett P, Coskeran P, Bouloux PM (1999) Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clin Endocrinol 51:525–529

    Article  CAS  Google Scholar 

  • Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N (2007) Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med 357:863–873

    Article  CAS  PubMed  Google Scholar 

  • Rosenbloom AL, Almonte SA, Brown MR, Fisher DA, Baumbach L, Parks JS (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutations of the PROP 1 gene. J Clin Endocrinol Metab 84:50–57

    Article  CAS  PubMed  Google Scholar 

  • Rump P, Hamel BCJ, Pinckers AJLG, van Dop PA (1997) Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J Med Genet 34:767–771

    Article  CAS  PubMed  Google Scholar 

  • Saeger W, Lüdecke DK, Buchfelder M, Fahlbusch R, Quabbe HJ, Petersenn S (2007) Pathohistological classification of pituitary tumors: 10 years of experience with the German Pituitary Tumor Registry. Eur J Endocrinol 156:203–216

    Article  CAS  PubMed  Google Scholar 

  • Sampson JR, Tolmie JL, Cant JS (1989) Oliver McFarlane syndrome: a 25-year follow-up. Am J Med Genet 34:199–201

    Article  CAS  PubMed  Google Scholar 

  • Schlechte JA (2003) Clinical practice. Prolactinoma. N Engl J Med 349:2035–2041

    Article  CAS  PubMed  Google Scholar 

  • Schlechte JA (2007) Long-term management of prolactinoma. J Clin Endocrinol Metab 92:2861–2865

    Article  CAS  PubMed  Google Scholar 

  • Schmidt H, Knorr D, Schwarz HP (1998) Oral testosterone undecanoate for the induction of puberty in anorchid boys. Arch Dis Child 78:395

    Article  Google Scholar 

  • Schopohl J, Mehltretter G, von Zumbusch R, Eversmann T, von Werder K (1991) Comparison of gonadotropin-releasing hormone and gonadotropin therapy in male patients with idiopathic hypothalamic hypogonadism. Fertil Steril 56:1143–1150

    CAS  PubMed  Google Scholar 

  • Schwanzel-Fukuda M, Bick D, Pfaff DW (1989) Luteinizing hormonereleasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Mol Brain Res 6:311–326

    Article  CAS  PubMed  Google Scholar 

  • Sedlmeyer IL, Palmert MR (2002) Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 87:1613–1620

    Article  CAS  PubMed  Google Scholar 

  • Sedlmeyer IL, Hirschhorn JN, Palmert MR (2002) Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab 87:5581–5586

    Article  CAS  PubMed  Google Scholar 

  • Seminara SB, Hayes FJ, Crowley WF (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations. Endocr Rev 19:521–539

    Article  CAS  PubMed  Google Scholar 

  • Seminara SB, Acierna JS Jr, Abdulwahid NA, Crowley WF Jr, Marglin DH (2002) Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab 87:1607–1612

    Article  CAS  PubMed  Google Scholar 

  • Sherlock M, Toogood AA, Steeds R (2009) Dopamine agonist therapy for hyperprolactinaemia and cardiac valve fibrosis, a lot done but much more to do. Heart 2009 Jan 27. [Epub ahead of print]

    Google Scholar 

  • Sinisi AA, Esposito D, Maione L, Quinto MC, Visconti D, De Bellis A, Bellastella A, Conzo G, Bellastella G (2008) Seminal anti-Müllerian hormone level is a marker of spermatogenic response during long-term gonadotropin therapy in male hypogonadotropic hypogonadism. Hum Reprod 23:1029–1034

    Article  CAS  PubMed  Google Scholar 

  • Smals AGH, Hermus ARM, Boers GHJ, Pieters GFF, Benraad TJ, Kloppenborg PWC (1994) Predictive value of luteinizing hormone releasing hormone (LHRH) bolus testing before and after 36-hour pulsatile LHRH administration in the differential diagnosis of constitutional delay of puberty and male hypogonadotropic hypogonadism. J Clin Endocrinol Metab 78:602–608

    Article  CAS  PubMed  Google Scholar 

  • Soliman AT, Rajab A, AlSalmi I, Asfour MG (1996) Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. Metabolism 45:1230–1234

    Article  CAS  PubMed  Google Scholar 

  • Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ (2004) Array comparative genomichybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet 41:669–678

    Article  CAS  PubMed  Google Scholar 

  • Spratt DI, Carr DB, Merriam GR, Scully RE, Rao PN, Crowley WF Jr (1987) The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: clinical and laboratory correlations. J Clin Endocrinol Metab 64:283–291

    Article  CAS  PubMed  Google Scholar 

  • Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloui NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 80:1–11

    Article  CAS  PubMed  Google Scholar 

  • Takahashi T, Shoji Y, Haraguchi N, Takahashi I, Takada G (1997) Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J Pediatr 130: 485–488

    Article  CAS  PubMed  Google Scholar 

  • Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O’Rahilly S, Semple RK (2009) TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nat Genet 2009 41:354–358

    Article  CAS  PubMed  Google Scholar 

  • Vogels A, Moerman P, Frijns JP, Bogaert GA (2008) Testicular histology in boys with Prader-Willi syndrome: fertile or infertile? J Urol 180(Suppl 4): 1800–1804

    Article  PubMed  Google Scholar 

  • Warne DW, Decosterd G, Okada H, Yano Y, Koide N, Howles CM (2008) A combined analysis of data to identify predictive factors for spermatogenesis in men with hypogonadotropic hypogonadism treated with recombinant human follicle-stimulating hormone and human chorionic gonadotropin. Fertil Steril 2008 Oct 16. [Epub ahead of print]

    Google Scholar 

  • Wehkalampi K, Vangonen K, Laine T, Dunkel L (2007) Progressive reduction of relative height in childhood predicts adult stature below target height in boys with constitutional delay of growth and puberty. Horm Res 68:99–104

    Article  CAS  PubMed  Google Scholar 

  • Wehkalampi K, Widen E, Laine T, Palotie A, Dunkel L (2008a) Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care. J Clin Endocrinol Metab 93:723–728

    Article  CAS  PubMed  Google Scholar 

  • Wehkalampi K, Widen E, Laine T, Palotie A, Dunkel L (2008b) Association of the timing of puberty with a chromosome 2 locus. J Clin Endocrinol Metab [Epub ahead of print]

    Google Scholar 

  • von Werder K (1995) Alte und neue Therapieoptionen bei der Hyperprolaktinämie. In: Allolio B, Grußendorf M, Müller OA, Olbricht T, Schulte HM (eds) Syllabus des III. Intensivkursus für Klinische Endokrinologie. Bundesdruckerei, Neu-Isenburg, pp 108–115

    Google Scholar 

  • Willers B, Engelhardt L, Pelz L (1996) Sexual maturation in East German boys. Acta Paediatr 85:785–788

    Article  CAS  PubMed  Google Scholar 

  • Willnow S, Kiess W, Butenandt O, Dörr HG, Enders A, Strasser-Vogel B, Egger J, Schwarz HP (1996) Endocrine disorders in septo-optic dysplasia (De Morsier syndrome) — evaluation and follow up of 18 patients. Eur J Pediatr 155:179–184

    Article  CAS  PubMed  Google Scholar 

  • Wilson DA, Hofman PL, Miles HL, Unwin KE, McGrail CE, Cutfield WS (2006) Evaluation of the buserelin stimulation test in diagnosing gonadotropin deficiency in males with delayed puberty. J Pediatr 148:89–94

    Article  CAS  PubMed  Google Scholar 

  • Wollmann HA, Schultz U, Grauer ML, Ranke MB (1998) Reference values for height and weight in Prader-Willi syndrome based on 315 patients. Eur J Pediatr 157:634–642

    Article  CAS  PubMed  Google Scholar 

  • Young J, Rey R, Schaison G, Chanson P (2003) Hypogonadotropic hypogonadism as a model of post-natal testicular anti-Müllerian hormone secretion in humans. Mol Cell Endocrinol 211:51–54

    Article  CAS  PubMed  Google Scholar 

  • Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Weiwen G, Lalli E, Moser C, Walker AP, McCabe ERB, Meitinger T, Monaco AP, Sassone-Corsi P, Camerino G (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635–641

    Article  CAS  PubMed  Google Scholar 

  • Zanettini R, Antonini A, Gatto G, Gentile R, Tesei S, Pezzoli G (2007) Valvular heart disease and the use of dopamine agonists for Parkinson’s disease. N Engl J Med. 356:39–46

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Zentrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Halle (Saale), Ernst-Grube-Str.40, 06120, Halle

    Prof. Dr. med. Hermann M. Behre

  2. Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Domagkstr. 11, 48149, Münster

    Prof. Dr. med. Dr. h.c. Eberhard Nieschlag

  3. Endokrinologikum Hamburg, Lornsenstr. 4-6, 22767, Hamburg

    Prof. Dr. med. Carl-Joachim Partsch

  4. Institut für Humangenetik, Universitätsklinikum Münster, Vesaliusweg 12-14, 48149, Münster

    Prof. Dr. Peter Wieacker

  5. Department of Medicine, Endocrinology and Metabolism, University of Modena and Reggio Emilia Nuovo Ospedale Civile S. Agostino-Estense, Via Giardini, 1355, 1-41126, Modena

    Prof. Dr. Manuela Simoni

Authors
  1. Prof. Dr. med. Hermann M. Behre
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prof. Dr. med. Dr. h.c. Eberhard Nieschlag
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Prof. Dr. med. Carl-Joachim Partsch
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Prof. Dr. Peter Wieacker
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Prof. Dr. Manuela Simoni
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Domagkstr. 11, 48149, Münster

    Eberhard Nieschlag  & Susan Nieschlag M.A.  & 

  2. Zentrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Halle (Saale), Ernst-Grube-Str.40, 06120, Halle

    Hermann M. Behre

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer Medizin Verlag Heidelberg

About this chapter

Cite this chapter

Behre, H.M., Nieschlag, E., Partsch, CJ., Wieacker, P., Simoni, M. (2009). Störungen im Bereich des Hypothalamus und der Hypophyse. In: Nieschlag, E., Behre, H.M., Nieschlag, S. (eds) Andrologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-92963-5_12

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-92963-5_12

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-92962-8

  • Online ISBN: 978-3-540-92963-5

  • eBook Packages: Medicine (German Language)

Publish with us

Policies and ethics

Search

Navigation