References

Knobil E, Plant TM, Wildt L, Belchetz PE, Marshall G: Control of the rhesus monkey menstrual cycle: Permissive role of hypothalamic gonadotropin-releasing hormone. Science 1980;207: 1371–1373.
Terasawa E, Fernandez DL: Neurobiological mechanisms of the onset of puberty in primates. Endocr Rev 2001;22:111–151.
Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF Jr: Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest 2000;9:560–565.
Palmert MR, Boepple PA: Variation in the timing of puberty: Clinical spectrum and genetic investigation. J Endocrinol Invest 2001;86:2364–2368.
Strobel A, Issad T, Camoin L, et al: A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998;18:213–215.
Grumbach MM, Styne DM: Puberty: ontogeny, neuroendocrinology, physiology and disorders; in Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds): Williams' Textbook of Endocrinology, ed 9. Philaldelphia, Saunders, 1998, pp 1509–1625.
Fenichel P, Verdino P, Brucker F, et al: Exploration des hypogonadismes d'origine haute par làssociation pompe á LH-RH + test á la LH-RH. Rev Fr Endocr Clin 1986;1:27–34.
Conte FA, Grumbach MM, Kaplan SL: A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab 1975;40:670–674.
Bringer J, Lefebvre P, Boulet F, et al: Deficiency of energy balance and ovulatory disorders. Hum Reprod 1997;12(suppl 1):97–109.
Frisch R, McArthur JW: Menstrual cycles: Fatness as a determinant of minimum weight for height necessary for their maintenance or onset. Science 1974;185:949–951.
Ahmed ML, Ong KL, Morrell J, Cox L, Drayre N, Perry L, Preece MA, Dunger DB: Longitudinal study of leptin concentrations during puberty: Sex differences and relationship to changes in body composition. J Clin Endocrinol Metab 1999;84:899–905.
Barash A, Cheung C, Weigle S, et al: Leptin is a metabolic signal to the reproductive system. Endocrinology 1996;137:3144–3147.
Foster DL, Nagatani S: Physiological perspectives on leptin as a regulator of reproduction: Role in timing of puberty. Biol Reprod 1999;60:205–215.
Ahima RS, Dushay J, Flier SN, Prabakaran D, Flier JS: Leptin accelerates the onset of puberty in normal female mice. J Clin Invest 1997;99:391–395.
Farooqi IS, Jebb SA, Landmak G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999;341:879–884.
Veldhuis JD, Metzger DL, Martha PM, Mauras N, Kerrigan JR, Keenan B, Rogol AD, Pincus SM: Estrogen and testosterone, but not a non-aromatizable androgen, direct network integration of the hyporthalamo-somatotrope (growth hormone)-insulin like growth factor I axis in the human: Evidence from pubertal pathophysiology and sex-steroid hormone replacement. J Clin Endocrinol Metab 1997;82:3414–3420.
Kerrigan JR, Rogol AD: The impact of gonadal steroid hormone action on growth hormone secretion during childhood and adolescence. Endocr Rev 1992;13:281–298.
Juul A: The effects of estrogens on linear bone growth. Hum Reprod Uptake 2001;7:303–313.
Liu XY, Albertson K, Karlberg J: New reference for the age at childhood onset of growth and secular trend in the timing of puberty in Sweden. Acta Paediatr 2000;89:637–643.
Fredriks AM, Van Buuren S, Burgmeijer RJF: Continuing positive secular growth change in the Netherlands 1955–1997. Pediatr Res 2000;47:316–323.
Tanner JM, Whitehouse RH: Clinical longitudinal standards to height, weight, height velocity, and stages of puberty. Arch Dis Child 1976;51:170–179.
Lee PA, Guo SS, Kulin HE: Age of puberty: Data from the USA. APMIS 2001;109:81–88.
De Muinck Keizer-Schrama SMPF, Mul D: Trends in pubertal development in Europe. Hum Reprod Update 2001;7:287–291.
Forest MG: La puberté normale et le retard pubertaire. Reprod Hum Horm 2000;2:109–118.
Sävendahl L, Davenoport ML: Delayed diagnoses of Turner's syndrome: Proposed guidelines for change. J Pediatr 2000;137:1–8.
Rosenfield RL: Spontaneous Puberty and Fertility in Turner Syndrome. New York, Dekker, 1990, pp 131–148.
Toublanc JE, Roger M, Chaussain JL: Etiologies of late puberty. Horm Res 1991;36:136–140.
Price DA, Albertsson-Wikland K: Demography, auxology and response to rhGH treatment in girls with Turner's syndrome in the KIGS. Acta Paediatr Suppl 1993;391:69–74.
Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C: Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992;72:1289–1292.
Krasna TH, Lee ML, Smilow P, Sciorra L, Eierman L: Risk of malignancy in bilateral streak gonads: The role of the Y chromosome. J Pediatr Surg 1992;27:1376–1380.
Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M: Lànalyse de SRY n'explique pas toute la pathologie du déterminisme du sexe. Ann Endocrinol 1991;52:435–436.
Little M, Wells C: A clinical overview of WTI gene mutations. Hum Mutat 1997;9:209–225.
Wagner T, Wirth J, Meyer J, et al: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX-9. Cell 1994;79:1111–1120.
Bardoni B, Zanaria E, Guioli G, et al: A dosage-sensitive locus at chromosome Xp21 is involved in male-to-male sex reversal. Nat Genet 1994;7:497–501.
Quigley CA, Debellis A, Marschke KB, Elawady MK, Wilson EM, French ES: Androgen receptor defects: Historical, clinical and molecular perspectives. Endocr Rev 1995;16:271–321.
Pallister PD, Opitz JM: The Perreault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex limited sensorineural deafness. Am J Med Genet 1979;4:239–246.
Amati P, Gasarini P, Zlotogora J: A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 1996;58:1089–1092.
Nicolino M, Bost M, David M, Chaussain JL: Familial blepharophimosis: An uncommon marker of ovarian dysgenesis. J Pediatr Endocrinol 1995;8:127–133.
Dessart Y, Odievre M, Evian D, Chaussain JL: Insuffisance ovarienne et galactosémie congénitale. Arch Fr Pédiatr 1982;39:321–322.
Huhtaniemi I, Aittomäki K: Mutations of follicle-stimulation hormone and its receptor: Effects on gonadal function. Eur J Endocrinol 1998;138:473–481.
Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, Milgrom E, Kutten F, Misrahi M: New natural inactivating mutations of the folliclestimulating hormone receptor: Correlations between receptor function and phenotype. Mol Endocrinol 1999;13:1844–1854.
La yman LC, Made S, Cohen DP, Jin M, Xie J: The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 1998;69:300–302.
Latronico AC, Anasti JA, Arnhold JP, Rappaport R, Mendoca BB, Bloise W: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormonereceptor gene. N Engl J Med 1996;334:507–512.
Thibaud E, Ramirez M, Brauner R, Flamant F, Zucker JM: Preservation of ovarian function by ovarian transposition performed before pelvic irradiation during childhood. J Pediatr 1992;121:880–884.
Teinturier C, Hartmann O, Valteu-Couanet D, Benhamou E, Bougneres PF: Ovarian function after autologous bone marrow transplantation in childhood: High dose busulfan is a major cause of ovarian failure. Bone Marrow Transplant 1998;22:989–994.
Jungmann E, Trautermann C: The status of the gonadotropin-releasing hormone test in differential diagnosis of delayed puberty in adolescents over 14 years of age. Med Klin 1994;89:529–533.
Bertherat J, Carel JC, Adamsbaum C, Bougnères PF, Chaussain JL: Endocrine evaluation and evolution of intrasellar craniopharyngioma (CPIS): Study of 8 cases. Arch Pediatr 1994;10:886–893.
Fénichel P, Guedj AM, Verdino P, Brucker F, et al: Aménorrhée hypothalamique: intérêts diagnostique et thérapeutique de làpport pulsatile de gonadoréline. Presse Méd 1988;17:61–64.
Hieronimus S, Hadjali Y, Fredenrich A, Paquis P, Chanallet S, Grimaud A, Michiels JF, Fénichel P: Hypothalamic-pituitary Langerhans' cell histiocytosis: A diagnosis challenge. Ann Endocrinol 2000;61:512–516.
Cholley F, Trinvin C, Sainte-Rose C, Souberbielle JC, Cinalli G, Brauner R: Disorders of growth and puberty in children with non-tumoral hydrocephalus. J Pediatr Endocrinol Metab 2001;14: 319–327.
Littlewood JM: Celiac disease in childhood. Baillères Clin Gastroenterol 1995;9:295–329.
Johannessonm M, Gottlieb C, Hjelte L: Delayed puberty in girls with cystic fibrosis despite good clinical status. Pediatrics 1997;1:29–34.
Perignon F, Brauner R, Soubernbielle JC, de Montalembert M, Girot R: Growth and endocrine function in major thalassaemia. Arch Fr Pediatr 1993;50:657–663.
Soliman AT, el Zalabany M, Amer M, Ansari BM: Growth and pubertal development in transfusion-dependent children and adolescents with major thalassaemia and sickle cell disease: A comparative study. J Trop Pediatr 1999;45:23–30.
Grinspoon S, Gulick T, Askari H, et al: Serum leptin in women with anorexia nervosa. J Clin Endocr Metab 1997;81:3861–3863.
Warren MP, Stiehl AL: Exercise and female adolescents: Effects on the reproductive and skeletal systems. J Am Med Womens Assoc 1999;54:115–120.
Weimann E, Blum WF, Witzel C, Schidegall S, Bohles HJ: Hypoleptinemia in female and male elite gymnasts. Eur J Clin Invest 1999;29:853–860.
Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE: 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 1998;83:3727–3734.
Gabilan JC, Royer P: Le syndrome de Prader, Labhardt et Willi. Arch Fr Pediatr 1968;25:121–123.
Seringue P, Allaneau C, Fores C, Guimbaud P: Le syndrome de Bardet-Bield et ses troubles endocriniens. Ann Endocrinol 1969;80:641–643.
Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S: Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1. Nat Genet 1997;16:218–220.
Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leurtenegger M, Bouloux PMG, Petit C: Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 1993;2:373–377.
Layman LC: Genetics of human hypogonadotropic hypogonadism. Am J Med Genet 1999;89: 240–248.
Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EMF, Latronico AC, Crowley WF Jr, Vallejo M: The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab 2001;86:1532–1538.
Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, et al: Idiopathic gonadotrophin deficiency: Genetic questions addressed through phenotypic characterization. Clin Endocrinol 2001;55:163–174.
De Roux N, Young J, Misrahi M, et al: Family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 1997;337:1597–1602.
Kottler ML, Chauvin S, Lahlou N, et al: A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, G106R) in a woman with complete hypogonadotropic hypogonadism: Chronic estrogen administration amplifies the gonadotropin defect. J Clin Endocrinol Metab 2000;85:3002–3008.
De Roux N, Young J, Brailly-Tabars S, et al: The same molecular defects of the gonadotropinreleasing hormone receptor determine a variable degree of hypogonadism in affected kindred. J Clin Endocrinol Metab 1999;84:567–572.
Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Gambino G: Primary amenorrhea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone. Nature 1993;5:83–86.
Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu KV, Van Lingen B, et al: Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone β-subunit gene. N Engl J Med 1997;337:607–611.
Merke DP, Tajima T, Baron J, Cutler GB Jr: Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX gene. N Engl J Med 1999;340:1248–1252.
Seminara SB, Acherman JC, Genel M, Jameson JL, Crowley WF Jr: X-linked congenital adrenal hypoplasia: A mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999;84:4501–4509.
Sagesse G, Cesaretti G, Gianessi N, Bracaloni C, Cinquanta L, Cioni C: Stimulated growth hormone secretion in children with delays in pubertal development before and after the onset of puberty. J Clin Endocrinol Metab 1992;78:30–35.
Odink RJ, Shoemaker J, Shoute E, Herdes E, Delemarre-Van de Waal HA: Predictive value of serum follicle-stimulating hormone levels in the differentiation between hypogonadotropic hypogonadism and constitutional delay of puberty. Horm Res 1998;49:279–287.
Ibanez L, Potau N, Zampolli M, Virdis R, Gussinye M, Carrascosa A, Saenger P, Vicens-Calvet E: Use of leuprolide acetate response patterns in the early diagnosis of pubertal disorders: Comparison with the gonadotropin-releasing hormone test. J Clin Endocrinol Metab 1994;78:30–35.
Vassal J, Chartier M, Job JC, Canlorbe P: Une cause rare dàménorrhée primaire: le syndrome de Rokitansky-Kuster-Hauser. Ann Pédiatr 1967;43:1081–1083.
Sultan C, Farret A, Paris F, Jeandel C, Attal G: Premenarchal expression of polycystic ovarian syndrome. Pediatr Res 2001;49:134A.
Heinrichs C, Bourguignon JP: Treatment of delayed puberty and hypogonadism in girls. Horm Res 1991;36:147–152.
Mazur T, Clopper RR: Pubertal disorders: Psychology and clinical management. Endocrinol Metab Clin North Am 1991;20:211–230.
Crowne EC, Shalet SM, Wallace WH, Eminson DM, Price DA: Final height in girls with untreated constitutional delay in growth and puberty. Eur J Pediatr 1991;150:708–712.
Brook CG: Treatment of late puberty. Horm Res 1999;51:101–103.
Bost M: Les enjeux de la féminisation dans le syndrome de Turner. Arch Pediatr 1995;2: 1035–1037.
Reiter EO, Blethen SL, Baptista J, Price L: Early initiation of growth hormone treatment allows age-appropriate estrogen use in Turner's syndrome. J Clin Endocrinol Metab 2001;86:1936–1941.
Chernausek SD, Attie KM, Cara JF, Rosenfeld RG, Frane J: Growth hormone therapy of Turner syndrome: The impact of age of estrogen replacement on final height. J Clin Endocrinol Metab 2000;85:2439–2445.
Illig R, DeCampo C, Lang-Muritano MR, Prader A, Torresani T, Werder EA, Willi U, Schenkel L: A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17β-oestradiol. Eur J Pediatr 1990;150:86–91.
Bertelloni S, Cinqhanta L, Baroncelli GI, Simi P, Rossi S, Sagesse G: Volumetric bone mineral density in young women with Turner's syndrome treated with estrogens plus growth hormone. Horm Res 2000;53:72–76.
Lagrou K, Xhrouet-Heinrichs D, Heinrich C, et al: Age-related perception of stature, acceptance of therapy and psychosocial functioning in human growth hormone-treated girls with Turner's syndrome. J Clin Endocrinol Metab 1998;83:1462–1466.
Fénichel P, Guedj AM, Verdino P, Brucker F, et al: Aménorrhée hypothalamique: intérêts diagnostique et thérapeutique de làpport pulsatile de gonadolibérine. Presse Méd 1988;17:61–64.
Letur-Könirsch H, DeBouard V, Borghi E, Selva J, Frydman R: Fécondation in vitro et syndrome de Turner. Gynécologie 1993;1:191–194.
References

References

Knobil E, Plant TM, Wildt L, Belchetz PE, Marshall G: Control of the rhesus monkey menstrual cycle: Permissive role of hypothalamic gonadotropin-releasing hormone. Science 1980;207: 1371–1373.
Terasawa E, Fernandez DL: Neurobiological mechanisms of the onset of puberty in primates. Endocr Rev 2001;22:111–151.
Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF Jr: Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest 2000;9:560–565.
Palmert MR, Boepple PA: Variation in the timing of puberty: Clinical spectrum and genetic investigation. J Endocrinol Invest 2001;86:2364–2368.
Strobel A, Issad T, Camoin L, et al: A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998;18:213–215.
Grumbach MM, Styne DM: Puberty: ontogeny, neuroendocrinology, physiology and disorders; in Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds): Williams' Textbook of Endocrinology, ed 9. Philaldelphia, Saunders, 1998, pp 1509–1625.
Fenichel P, Verdino P, Brucker F, et al: Exploration des hypogonadismes d'origine haute par làssociation pompe á LH-RH + test á la LH-RH. Rev Fr Endocr Clin 1986;1:27–34.
Conte FA, Grumbach MM, Kaplan SL: A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab 1975;40:670–674.
Bringer J, Lefebvre P, Boulet F, et al: Deficiency of energy balance and ovulatory disorders. Hum Reprod 1997;12(suppl 1):97–109.
Frisch R, McArthur JW: Menstrual cycles: Fatness as a determinant of minimum weight for height necessary for their maintenance or onset. Science 1974;185:949–951.
Ahmed ML, Ong KL, Morrell J, Cox L, Drayre N, Perry L, Preece MA, Dunger DB: Longitudinal study of leptin concentrations during puberty: Sex differences and relationship to changes in body composition. J Clin Endocrinol Metab 1999;84:899–905.
Barash A, Cheung C, Weigle S, et al: Leptin is a metabolic signal to the reproductive system. Endocrinology 1996;137:3144–3147.
Foster DL, Nagatani S: Physiological perspectives on leptin as a regulator of reproduction: Role in timing of puberty. Biol Reprod 1999;60:205–215.
Ahima RS, Dushay J, Flier SN, Prabakaran D, Flier JS: Leptin accelerates the onset of puberty in normal female mice. J Clin Invest 1997;99:391–395.
Farooqi IS, Jebb SA, Landmak G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999;341:879–884.
Veldhuis JD, Metzger DL, Martha PM, Mauras N, Kerrigan JR, Keenan B, Rogol AD, Pincus SM: Estrogen and testosterone, but not a non-aromatizable androgen, direct network integration of the hyporthalamo-somatotrope (growth hormone)-insulin like growth factor I axis in the human: Evidence from pubertal pathophysiology and sex-steroid hormone replacement. J Clin Endocrinol Metab 1997;82:3414–3420.
Kerrigan JR, Rogol AD: The impact of gonadal steroid hormone action on growth hormone secretion during childhood and adolescence. Endocr Rev 1992;13:281–298.
Juul A: The effects of estrogens on linear bone growth. Hum Reprod Uptake 2001;7:303–313.
Liu XY, Albertson K, Karlberg J: New reference for the age at childhood onset of growth and secular trend in the timing of puberty in Sweden. Acta Paediatr 2000;89:637–643.
Fredriks AM, Van Buuren S, Burgmeijer RJF: Continuing positive secular growth change in the Netherlands 1955–1997. Pediatr Res 2000;47:316–323.
Tanner JM, Whitehouse RH: Clinical longitudinal standards to height, weight, height velocity, and stages of puberty. Arch Dis Child 1976;51:170–179.
Lee PA, Guo SS, Kulin HE: Age of puberty: Data from the USA. APMIS 2001;109:81–88.
De Muinck Keizer-Schrama SMPF, Mul D: Trends in pubertal development in Europe. Hum Reprod Update 2001;7:287–291.
Forest MG: La puberté normale et le retard pubertaire. Reprod Hum Horm 2000;2:109–118.
Sävendahl L, Davenoport ML: Delayed diagnoses of Turner's syndrome: Proposed guidelines for change. J Pediatr 2000;137:1–8.
Rosenfield RL: Spontaneous Puberty and Fertility in Turner Syndrome. New York, Dekker, 1990, pp 131–148.
Toublanc JE, Roger M, Chaussain JL: Etiologies of late puberty. Horm Res 1991;36:136–140.
Price DA, Albertsson-Wikland K: Demography, auxology and response to rhGH treatment in girls with Turner's syndrome in the KIGS. Acta Paediatr Suppl 1993;391:69–74.
Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C: Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992;72:1289–1292.
Krasna TH, Lee ML, Smilow P, Sciorra L, Eierman L: Risk of malignancy in bilateral streak gonads: The role of the Y chromosome. J Pediatr Surg 1992;27:1376–1380.
Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M: Lànalyse de SRY n'explique pas toute la pathologie du déterminisme du sexe. Ann Endocrinol 1991;52:435–436.
Little M, Wells C: A clinical overview of WTI gene mutations. Hum Mutat 1997;9:209–225.
Wagner T, Wirth J, Meyer J, et al: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX-9. Cell 1994;79:1111–1120.
Bardoni B, Zanaria E, Guioli G, et al: A dosage-sensitive locus at chromosome Xp21 is involved in male-to-male sex reversal. Nat Genet 1994;7:497–501.
Quigley CA, Debellis A, Marschke KB, Elawady MK, Wilson EM, French ES: Androgen receptor defects: Historical, clinical and molecular perspectives. Endocr Rev 1995;16:271–321.
Pallister PD, Opitz JM: The Perreault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex limited sensorineural deafness. Am J Med Genet 1979;4:239–246.
Amati P, Gasarini P, Zlotogora J: A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 1996;58:1089–1092.
Nicolino M, Bost M, David M, Chaussain JL: Familial blepharophimosis: An uncommon marker of ovarian dysgenesis. J Pediatr Endocrinol 1995;8:127–133.
Dessart Y, Odievre M, Evian D, Chaussain JL: Insuffisance ovarienne et galactosémie congénitale. Arch Fr Pédiatr 1982;39:321–322.
Huhtaniemi I, Aittomäki K: Mutations of follicle-stimulation hormone and its receptor: Effects on gonadal function. Eur J Endocrinol 1998;138:473–481.
Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, Milgrom E, Kutten F, Misrahi M: New natural inactivating mutations of the folliclestimulating hormone receptor: Correlations between receptor function and phenotype. Mol Endocrinol 1999;13:1844–1854.
La yman LC, Made S, Cohen DP, Jin M, Xie J: The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 1998;69:300–302.
Latronico AC, Anasti JA, Arnhold JP, Rappaport R, Mendoca BB, Bloise W: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormonereceptor gene. N Engl J Med 1996;334:507–512.
Thibaud E, Ramirez M, Brauner R, Flamant F, Zucker JM: Preservation of ovarian function by ovarian transposition performed before pelvic irradiation during childhood. J Pediatr 1992;121:880–884.
Teinturier C, Hartmann O, Valteu-Couanet D, Benhamou E, Bougneres PF: Ovarian function after autologous bone marrow transplantation in childhood: High dose busulfan is a major cause of ovarian failure. Bone Marrow Transplant 1998;22:989–994.
Jungmann E, Trautermann C: The status of the gonadotropin-releasing hormone test in differential diagnosis of delayed puberty in adolescents over 14 years of age. Med Klin 1994;89:529–533.
Bertherat J, Carel JC, Adamsbaum C, Bougnères PF, Chaussain JL: Endocrine evaluation and evolution of intrasellar craniopharyngioma (CPIS): Study of 8 cases. Arch Pediatr 1994;10:886–893.
Fénichel P, Guedj AM, Verdino P, Brucker F, et al: Aménorrhée hypothalamique: intérêts diagnostique et thérapeutique de làpport pulsatile de gonadoréline. Presse Méd 1988;17:61–64.
Hieronimus S, Hadjali Y, Fredenrich A, Paquis P, Chanallet S, Grimaud A, Michiels JF, Fénichel P: Hypothalamic-pituitary Langerhans' cell histiocytosis: A diagnosis challenge. Ann Endocrinol 2000;61:512–516.
Cholley F, Trinvin C, Sainte-Rose C, Souberbielle JC, Cinalli G, Brauner R: Disorders of growth and puberty in children with non-tumoral hydrocephalus. J Pediatr Endocrinol Metab 2001;14: 319–327.
Littlewood JM: Celiac disease in childhood. Baillères Clin Gastroenterol 1995;9:295–329.
Johannessonm M, Gottlieb C, Hjelte L: Delayed puberty in girls with cystic fibrosis despite good clinical status. Pediatrics 1997;1:29–34.
Perignon F, Brauner R, Soubernbielle JC, de Montalembert M, Girot R: Growth and endocrine function in major thalassaemia. Arch Fr Pediatr 1993;50:657–663.
Soliman AT, el Zalabany M, Amer M, Ansari BM: Growth and pubertal development in transfusion-dependent children and adolescents with major thalassaemia and sickle cell disease: A comparative study. J Trop Pediatr 1999;45:23–30.
Grinspoon S, Gulick T, Askari H, et al: Serum leptin in women with anorexia nervosa. J Clin Endocr Metab 1997;81:3861–3863.
Warren MP, Stiehl AL: Exercise and female adolescents: Effects on the reproductive and skeletal systems. J Am Med Womens Assoc 1999;54:115–120.
Weimann E, Blum WF, Witzel C, Schidegall S, Bohles HJ: Hypoleptinemia in female and male elite gymnasts. Eur J Clin Invest 1999;29:853–860.
Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE: 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 1998;83:3727–3734.
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