Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3030-3034

  Eldar Geva, Talia ^a,b,d   Hirsch, Harry J ^a,b   Pollak, Yehuda ^a,b   Benarroch, Fortu ^a,b,c,d   Gross Tsur, Varda ^a,b,d  

^a The Israel Multidisciplinary Prader Willi Syndrome Clinic   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d HEBREW UNIVERSITY   (Israel)

Author keywords

Contraception; Hormone replacement therapy; Hypogonadism; Prader Willi syndrome

Indexed keywords

CALCIUM; DROSPIRENONE PLUS ETHINYLESTRADIOL; ESTROGEN; FOLLITROPIN; INHIBIN B; LOW MOLECULAR WEIGHT HEPARIN; ORAL CONTRACEPTIVE AGENT; PROGESTERONE; VITAMIN D;

ADOLESCENT; ADULT; AMENORRHEA; ARTICLE; BODY MASS; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG WITHDRAWAL; ENDOMETRIAL THICKNESS; FEMALE; HORMONAL CONTRACEPTION; HORMONE SUBSTITUTION; HUMAN; HYPOGONADISM; INDUCED ABORTION; INTRAUTERINE CONTRACEPTIVE DEVICE; LOW DRUG DOSE; LUNG EMBOLISM; OLIGOMENORRHEA; OSTEOPENIA; OSTEOPOROSIS; OVARY CYST; OVARY INSUFFICIENCY; PRADER WILLI SYNDROME; PREGNANCY TERMINATION; PRIORITY JOURNAL; SEXUAL BEHAVIOR; SPOTTING; THORAX PAIN; TREATMENT REFUSAL; UNIPARENTAL DISOMY; UTERUS MYOMA;

CONTRACEPTION; HORMONE REPLACEMENT THERAPY; HYPOGONADISM; PRADER-WILLI SYNDROME;

ADULT; FEMALE; FERTILITY; FOLLICLE STIMULATING HORMONE; HUMANS; HYPOGONADISM; INHIBINS; PRADER-WILLI SYNDROME; PREGNANCY;

EID: 84888069932     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36152     Document Type: Article

References (24)

1. Akefeldt A, Törnhage CJ, Gillberg C. 1999. A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev Med Child Neurol 41:789-790.
2. Brandau DT, Theodoro M, Garg U, Butler MG. 2008. Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am J Med Genet Part A 146A:665-669.
3. Carel JC, Léger J. 2008. Precocious puberty. N Engl J Med 358:2366-2377.
4. Cassidy SB, Driscoll DJ. 2009. Prader-Willi syndrome. Eur J Hum Genet 17:3-13.
5. Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, Gargantini L, Salvatoni A, Tonini G, Levieri 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.
6. Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, Grandjean H, Tauber M, French Reference Centre for PWS. 2010. Endocrine disorders in children with Prader-Willi syndrome-Data from 142 children of the French database. Horm Res Paediatr 74:121-128.
7. 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.
8. Eldar-Geva T, Hirsch HJ, Rabinowitz R, Benarroch F, Rubinstein O, Gross-Tsur V. 2009. Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi syndrome. Horm Res 72:153-159.
9. Eldar-Geva T, Hirsch HJ, Benarroch F, Rubinstein O, Gross-Tsur V. 2010. Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: Variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol 162:377-384.
10. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. 2008. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 93:4183-4197.
11. Gross-Tsur V, Eldar-Geva T, Benarroch F, Rubinstein O, Hirsch HJ. 2011. Body image and sexual interests in adolescents and young adults with Prader-Willi syndrome. J Pediatr Endocrinol Metab 24:469-475.
12. Gross-Tsur V, Hirsch HJ, Benarroch F, Eldar-Geva T. 2012. The FSH-inhibin axis in Prader-Willi syndrome: Heterogeneity of gonadal dysfunction. Reprod Biol Endocrinol 6:39.
13. Hirsch HJ, Eldar-Geva T, Benarroch F, Rubinstein O, Gross-Tsur V. 2009. Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab 94:2262-2268.
14. Hockey A. 1986. X-linked intellectual handicap and precocious puberty with obesity in carrier females. Am J Med Genet 23:127-137.
15. Höybye C, Hilding A, Jacobsson H, Thorén M. 2002. Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J Clin Endocrinol Metab 87:3590-3597.
16. Jørgensen AP, Ueland T, Sode-Carlsen R, Schreiner T, Rabben KF, Farholt S, Høybye C, Christiansen JS, Bollerslev J. 2013. Two years of growth hormone treatment in adults with Prader-Willi syndrome do not improve the low BMD. J Clin Endocrinol Metab 98:E753-E760. February 22 [Epub ahead of print].
17. Kwee J, Schats R, McDonnell J, Themmen A, de Jong F, Lambalk C. 2008. Evaluation of anti-Mullerian hormone as a test for the prediction of ovarian reserve. Fertil Steril 90:737-743.
18. Laxova R, Gilderdale S, Ridler MAC. 1973. An aetiological study of fifty-three female patients from a subnormality hospital and of their offspring. J Ment Defic Res 17:193-225.
19. Pusz ER, Rotenstein D. 2008. Treatment of precocious puberty in a female with Prader-Willi syndrome. J Pediatr Endocrinol Metab 21:495-500.
20. Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brøndum-Nielsen K. 2001. Fertility in Prader-Willi syndrome: A case report with Angelman syndrome in the offspring. Acta Paediatrica 90:455-459.
21. Sehested A, Juul AA, Andersson AM, Petersen JH, Jensen TK, Miller J, Skakkebaek NE. 2000. Serum inhibin A and inhibin B in healthy prepubertal, pubertal, and adolescent girls and adult women: Relation to age, stage of puberty, menstrual cycle, follicle-stimulating hormone, luteinizing hormone, and estradiol levels. J Clin Endocrinol Metab 85:1634-1640.
22. Siemensma EP, van Alfen-van der Velden AA, Otten BJ, Laven JS, Hokken-Koelega AC. 2012. Ovarian function and reproductive hormone levels in girls with Prader-Willi syndrome: A longitudinal study. J Clin Endocrinol Metab 97:E1766-E1773.
23. Sinnema M, Maaskant MA, van Schrojenstein Lantman-de Valk HM, van Nieuwpoort IC, Drent ML, Curfs LM, Schrander-Stumpel CT. 2011. Physical health problems in adults with Prader-Willi syndrome. Am J Med Genet Part A 155A:2112-2124.
24. Tanner JM. 1962. Growth at adolescence, 2nd edition. Oxford, UK: Blackwell Scientific. pp 88-102.