Abstract

CONTEXT
The etiology of hypogonadism in girls with Prader-Willi syndrome (PWS) remains uncertain.
OBJECTIVES
The aim of the study was to evaluate gonadal function longitudinally in girls and female adolescents with PWS.
MEASUREMENTS
We performed a longitudinal assessment of anti-müllerian hormone (AMH), gonadotropins, estradiol (E(2)), inhibin B and A, and pubertal development in girls and female adolescents with PWS.
PATIENTS AND METHODS
Sixty-one girls participating in the Dutch PWS Cohort study participated in the study. Serum AMH, gonadotropins, E(2), and inhibin B and A levels were compared with reference values.
RESULTS
AMH levels in girls and female adolescents with PWS were comparable to reference levels between 6 months and 22 yr of age. From 10 yr of age, FSH and LH levels increased to above the 5th percentile compared to reference levels. E(2) and inhibin B levels were in the low normal range in the majority, and inhibin A levels were low but detectable in almost half the female adolescents with PWS. The median age at puberty onset was comparable, but the median ages at attaining Tanner M3 (P = 0.05) and M4 (P < 0.0001) were significantly higher in girls with PWS than in healthy references.
CONCLUSION
Our study shows that the primordial follicle pool and number of small antral follicles are conserved in girls and female adolescents with PWS. We found no classical hypogonadotropic hypogonadism. However, maturation of follicles and progression of pubertal development are impaired, which might be due to dysregulation of LH secretion. Because these impairments are not absolute, ovulation and thus conception cannot be ruled out in individual female adolescents with PWS.

Links

Publisher Full Text

Authors

Siemensma EP, van Alfen-van der Velden AA, Otten BJ, Laven JS, Hokken-Koelega AC

Institution

Dutch Growth Research Foundation, Westzeedijk 106, 3016 AH Rotterdam, The Netherlands. e.siemensma@kindengroei.nl

Source

The Journal of clinical endocrinology and metabolism 97:9 2012 Sep pg E1766-73

MeSH

Adolescent
Aging
Anti-Mullerian Hormone
Child
Child, Preschool
Cohort Studies
Enzyme-Linked Immunosorbent Assay
Estradiol
Estrogens
Female
Fertility
Follicle Stimulating Hormone
Humans
Infant
Inhibins
Longitudinal Studies
Luteinizing Hormone
Ovarian Function Tests
Ovary
Prader-Willi Syndrome
Puberty
Young Adult

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22723315