Diseases of the hypothalamus and the pituitary gland

Andrology: Male Reproductive Health and Dysfunction

Volumn , Issue , 2010, Pages 169-192

  Behre, Hermann M ^a   Nieschlag, Eberhard ^b   Partsch, Carl Joachim ^c   Wieacker, Peter ^b   Simoni, Manuela ^d  

^a Center for Reproductive Medicine and Andrology of the University   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c ENDOKRINOLOGIKUM HAMBURG   (Germany)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84892270174     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-78355-8_12     Document Type: Chapter

References (135)

1. 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, Oxford, pp 33-37
2. 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
3. Baraitser M (ed) (1997) Cerebellar ataxia. In: The genetics of neurological disorders, 3rd edn. Oxford University Press, Oxford, pp 146-165
4. 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
5. 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
6. 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
7. Bédécarrats G Y, Kaiser UB (2007) Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. Semin Reprod Med 25:368-378
8. Berezin M, Karasik A (1995) Familial prolactinoma. Clin Endocrinol 42:483-486
9. Bevan JS, Webster J, Burke C, Scanlon MF (1992) Dopamine agonists and pituitary tumor shrinkage. Endocr Rev 13:220-240
10. Biro FM, Lucky AW, Huster GA, Morrison JA (1995) Pubertal staging in boys. J Pediatr 127:100-102
11. Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombès M, Millar RP, Guiochon-Mantel A, Young J (2009) Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N Engl J Med 360:2742-2748
12. 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
13. 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
14. 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
15. Budarf ML, Emanuel BS (1997) Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders? Hum Molec Genet 6:1657-1665
16. Burghes AH, Vaessin HE, De La Chapelle A (2001) The land between Mendelian and multifactorial inheritance. Science 293:2213-2214
17. 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
18. 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
19. 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
20. Butler J V, Whittington JE, Holland AJ, Boer H, Clark D, Webb T (2002) Prevalence of, and risk factors for, physical illhealth in people with Prader-Willi syndrome: a populationbased study. Dev Med Child Neurol 44:248-255
21. 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
22. 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
23. Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P (1999a) Combined hypothalamic-pituitarygonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. J Clin Endocrinol Metab 84:3563-3569
24. 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
25. 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 65:265-273
26. Cassidy SB (1997) Prader-Willi syndrome. J Med Genet 34:917-923
27. Chaidarun SS, Klibanski A (2002) Gonadotropinomas. Semin Reprod Med 20:339-348
28. Chan YM, De Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF Jr, Amory JK, Pitteloud N, Seminara SB (2009) GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA. 106:11703-11708
29. 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
30. 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
31. 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
32. 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
33. 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(2):953-957
34. 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
35. 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
36. 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(2):48-55
37. 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
38. 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
39. 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
40. Dodé C, Hardelin JP (2004) Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med 82:725-734
41. 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-offunction mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463-465
42. 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
43. 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
44. Eiholzer U, L'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M (2006) Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab 91:892-898
45. 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
46. 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
47. 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
48. 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 PROP1 gene mutation resulting in the substitution of Arg → Cys at codon 120 (R120C). J Clin Endocrinol Metab 83:3727-3734
49. Gillam MP, Molitch ME, Lombardi G, Colao A (2006) Advances in the treatment of prolactinomas. Endocr Rev 27:485-534
50. 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
51. 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
52. 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
53. Greulich WW, Pyle SI (1959) Radiographic atlas of skeletal development of the hand and wrist, 2nd edn. Stanford University Press, Stanford, CA
54. 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
55. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF, 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
56. 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 70:104-108
57. 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
58. 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
59. Jaffe CA (2006) Clinically non-functioning pituitary adenoma. Pituitary 9:317-321
60. 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
61. Kallmann FJ, Schoenfeld WA, Barrera SE (1944) The genetic aspects of primary eunuchoidism. Amer J Ment Defic 48:203-236
62. 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 65:524-529
63. 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
64. Kaspers S, Richter-Unruh A, Schmittmann-Ohters K, Hauffa BP (2004) Buserelin testing in 70 adolescents with delayed puberty. Horm Res 62(2):80 (P2-282)
65. Katsanis N (2004) The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 13 Spec No 1:R65-71
66. 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
67. Kelberman D, Dattani MT (2008) Septo-optic dysplasia - novel insights into the aetiology. Horm Res 69:257-265
68. Kelch RP, Virdis R, Rappaport R, Greig F, Levine LS, New MI (1984) Congenital adrenal hypoplasia. Pediatr Adolesc Endocrinol 13:156-161
69. 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
70. 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
71. Kletter GB, Gorski JL, Kelch RP (1991) Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab 2:123-128
72. Koeppen AH (1998) The hereditary ataxias. J Neuropathol Exp Neurol 57:531-543
73. 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
74. 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
75. 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
76. Largo RH, Prader A (1983) Pubertal development of Swiss boys. Helv Paediatr Acta 38:211-228
77. 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
78. 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
79. 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
80. 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
81. Mancini T, Casanueva FF, Giustina A. Hyperprolactinemia and prolactinomas (2008) Endocrinol Metab Clin North Am 37:67-99
82. 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
83. 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
84. Melmed S (2008) Update in pituitary disease. J Clin Endocrinol Metab 93:331-338
85. 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
86. 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
87. 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
88. 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
89. 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
90. Partsch C-J, Sippell WG (1989) Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm Metab Res 11:623-625
91. 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
92. 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
93. 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
94. Pasqualini RQ, Burr GE (1950) Sindrome hypoandrogenico con gametogenesis conservada. Classification del la insufficiencia testicular. Rev Asoc Med Argent 64:6-19
95. 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
96. Pitteloud N, Boepple PA, De Cruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ (2001) The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab 86:2470-2475
97. 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
98. 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
99. 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
100. 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
101. 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
102. 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 PROP1 gene. J Clin Endocrinol Metab 84:50-57
103. Rump P, Hamel B C J, Pinckers A J L G, Van Dop PA (1997) Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J Med Genet 34:767-771
104. 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
105. Sampson JR, Tolmie JL, Cant JS (1989) Oliver McFarlane syndrome: a 25-year follow-up. Am J Med Genet 34:199-201
106. Schlechte JA (2003) Clinical practice. Prolactinoma. N Engl J Med 349:2035-2041
107. Schlechte JA (2007) Long-term management of prolactinoma. J Clin Endocrinol Metab 92:2861-2865
108. Schmidt H, Knorr D, Schwarz HP (1998) Oral testosterone undecanoate for the induction of puberty in anorchid boys. Arch Dis Child 78:395
109. 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
110. Schwanzel-Fukuda M, Bick D, Pfaff DW (1989) Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Mol Brain Res 6:311-326
111. Sedlmeyer IL, Palmert MR (2002) Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 87:1613-1620
112. 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
113. Seminara SB, Hayes FJ, Crowley WF (1998) Gonadotropinreleasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev 19:521-539
114. 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
115. 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 [Epub ahead of print]
116. 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
117. Smals A G H, Hermus A R M, Boers G H J, Pieters G F F, Benraad TJ, Kloppenborg P W C (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 Endo crinol Metab 78:602-608
118. Soliman AT, Rajab A, Al Salmi 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
119. 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 genomic hybridisation 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
120. 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
121. 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
122. 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
123. 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 familliar hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. Nat Genet. 41:354-358
124. Vogels A, Moerman P, Frijns JP, Bogaert GA (2008) Testicular histology in boys with Prader-Willi syndrome: fertile or infertile? J Urol 180(4):1800-1804
125. 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 [Epub ahead of print]
126. 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
127. 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
128. 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]
129. Willers B, Engelhardt L, Pelz L (1996) Sexual maturation in East German boys. Acta Paediatr 85:785-788
130. 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
131. 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
132. 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
133. 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
134. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Weiwen G, Lalli E, Moser C, Walker AP, McCabe E R B, 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
135. 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