Leptin substitution results in the induction of menstrual cycles in an adolescent with leptin deficiency and hypogonadotropic hypogonadism

Hormone Research in Paediatrics

Volumn 77, Issue 2, 2012, Pages 127-133

  Von Schnurbein, J ^a   Moss, A ^a   Nagel, S A ^a   Muehleder, H ^b   Debatin, K M ^a   Farooqi, I S ^c   Wabitsch, M ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b Children's Hospital Wels   (Austria)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Hypogonadotropic hypogonadism; Leptin; Obesity; Puberty

Indexed keywords

FOLLITROPIN; GONADORELIN; GROWTH HORMONE; LEPTIN; LUTEINIZING HORMONE; SOMATOMEDIN C; THYROXINE;

ADOLESCENT; ADOLESCENT DISEASE; ARTICLE; AUSTRIA; BLOOD ANALYSIS; BODY HEIGHT; BODY MASS; BODY WEIGHT; CASE REPORT; DELAYED PUBERTY; DEVELOPMENTAL STAGE; ECHOMAMMOGRAPHY; FEMALE; FOLLITROPIN BLOOD LEVEL; FREE THYROXINE INDEX; GONADORELIN TEST; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE RELEASE; GROWTH RATE; HOMOZYGOSITY; HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LEPTIN DEFICIENCY; LUTEINIZING HORMONE BLOOD LEVEL; MEDICAL HISTORY; PRIORITY JOURNAL; TREATMENT OUTCOME;

ADOLESCENT; BODY MASS INDEX; FEMALE; HUMANS; HYPOGONADISM; LEPTIN; MENARCHE; OBESITY; PUBERTY, DELAYED; TREATMENT OUTCOME;

EID: 84859916102     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000336003     Document Type: Article

References (26)

1. Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S: Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387: 903-908. (Pubitemid 27289591)
2. Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD: A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998; 18: 213-215.
3. Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V, Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S: Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/ metabolic dysfunction of human congenital leptin deficiency. J Clin Invest 2002; 110: 1093-1103. (Pubitemid 35215890)
4. Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA: Congenital leptin deficiency due to homozygosity for the delta133g mutation: Report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab 2004; 89: 4821-4826. (Pubitemid 39391413)
5. Ozata M, Ozdemir IC, Licinio J: Human leptin deficiency caused by a missense mutation: Multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. J Clin Endocrinol Metab 1999; 84: 3686-3695. (Pubitemid 30645226)
6. Paz-Filho GJ, Babikian T, Asarnow R, Esposito K, Erol HK, Wong ML, Licinio J: Leptin replacement improves cognitive development. PLoS ONE 2008; 3:e3098.
7. Mazen I, El-Gammal M, Abdel-Hamid M, Amr K: A novel homozygous missense mutation of the leptin gene (n103k) in an obese Egyptian patient. Mol Genet Metab 2009; 97: 305-308.
8. Farooqi IS: Monogenic human obesity. Front Horm Res 2008; 36: 1-11.
9. Fischer-Posovszky P, von Schnurbein J, Moepps B, Lahr G, Strauss G, Barth TF, Kassubek J, Muhleder H, Moller P, Debatin KM, Gierschik P, Wabitsch M: A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness. J Clin Endocrinol Metab 2010; 95: 2836-2840.
10. Ingalls AM, Dickie MM, Snell GD: Obese, a new mutation in the house mouse. J Hered 1950; 41: 317-318.
11. Swerdloff RS, Batt RA, Bray GA: Reproductive hormonal function in the genetically obese (ob/ob) mouse. Endocrinology 1976; 98: 1359-1364.
12. Chehab FF, Lim ME, Lu R: Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin. Nat Genet 1996; 12: 318-320. (Pubitemid 26080094)
13. Farooqi IS, Jebb SA, Langmack 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. (Pubitemid 29427050)
14. Licinio J, Caglayan S, Ozata M, Yildiz BO, de Miranda PB, O'Kirwan F, Whitby R, Liang L, Cohen P, Bhasin S, Krauss RM, Veldhuis JD, Wagner AJ, DePaoli AM, McCann SM, Wong ML: Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptindeficient adults. Proc Natl Acad Sci USA 2004; 101: 4531-4536. (Pubitemid 38437445)
15. Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S: Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356: 237-247. (Pubitemid 46143227)
16. Bray GA, York DA: Hypothalamic and genetic obesity in experimental animals: An autonomic and endocrine hypothesis. Physiol Rev 1979; 59: 719-809. (Pubitemid 9236601)
17. Tannenbaum GS, Lapointe M, Gurd W, Finkelstein JA: Mechanisms of impaired growth hormone secretion in genetically obese Zucker rats: Roles of growth hormone-releasing factor and somatostatin. Endocrinology 1990; 127: 3087-3095.
18. Carro E, Senaris R, Considine RV, Casanueva FF, Dieguez C: Regulation of in vivo growth hormone secretion by leptin. Endocrinology 1997; 138: 2203-2206. (Pubitemid 27180841)
19. Ozata M, Dieguez C, Casanueva FF: The inhibition of growth hormone secretion presented in obesity is not mediated by the high leptin levels: A study in human leptin deficiency patients. J Clin Endocrinol Metab 2003; 88: 312-316. (Pubitemid 36115182)
20. Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B: A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998; 392: 398-401. (Pubitemid 28168737)
21. Dubuc PU: Thyroid hormone responses to feeding in ob/ob mice. Horm Metab Res 1989; 21: 546-549. (Pubitemid 19255448)
22. Herter LD, Golendziner E, Flores JA, Becker E Jr., Spritzer PM: Ovarian and uterine sonography in healthy girls between 1 and 13 years old: Correlation of findings with age and pubertal status. AJR Am J Roentgenol 2002; 178: 1531-1536. (Pubitemid 34547845)
23. Prader A, Largo RH, Molinari L, Issler C: Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl 1989; 52: 1-125.
24. Musso C, Cochran E, Javor E, Young J, Depaoli AM, Gorden P: The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients. Metabolism 2005; 54: 255-263. (Pubitemid 40174856)
25. Andreelli F, Hanaire-Broutin H, Laville M, Tauber JP, Riou JP, Thivolet C: Normal reproductive function in leptin-deficient patients with lipoatropic diabetes. J Clin Endocrinol Metab 2000; 85: 715-719. (Pubitemid 32273659)
26. Bayley N, Pinneau SR: Tables for predicting adult height from skeletal age: Revised for use with the Greulich-Pyle hand standards. J Pediatr 1952; 40: 423-441.