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Hypogonadism in Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Sakina Kherra1, Wendy Forsyth Paterson2, Filiz Mine Cizmecioğlu3

  • 1CHU Parnet Hopital, Algiers, Algeria.

Endocrine Connections
|August 12, 2021
PubMed

Insights

Prader-Willi syndrome (PWS) patients show invariable hypogonadism. Hormone replacement is underutilized, necessitating trials of sex steroids to address treatment gaps and behavioral concerns.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is characterized by significant hypogonadism.
  • Current strategies for hormone replacement therapy in PWS are not well-defined.

Purpose of the Study:

  • To assess the gonadal status and treatment outcomes in individuals with PWS.
  • To evaluate the effectiveness of hormone replacement in PWS patients.

Main Methods:

  • Retrospective analysis of 93 patients (35 female, 56 male) with PWS from a Scottish clinic (1991-2019).
  • Clinical assessment of gonadal and pubertal status, pelvic ultrasound, and gonadotropin levels compared to age-matched controls.
  • Evaluation of hormone replacement therapy, including estrogen and androgen treatments, and their outcomes.

Main Results:

  • Females: Limited pubertal development and menarche in most; immature uterine configuration and low follicular counts noted. Estrogen replacement was given to only 5 patients.
  • Males: High prevalence of cryptorchidism (96%). hCG therapy achieved testicular descent in some. Pubertal progression was delayed or arrested in many; elevated FSH levels observed in some stages. Testosterone levels were low in older males.
  • Hormone replacement therapy was underutilized in both sexes, with androgen therapy stopped in some males due to behavioral issues.

Conclusions:

  • Prader-Willi syndrome invariably involves hypogonadism, yet hormone replacement is infrequently administered.
  • Further research, including double-blind, placebo-controlled trials of sex steroids, is needed to establish optimal treatment protocols and address behavioral concerns.
Abstract

Keywords:
Prader–Willi syndromecentral hypogonadismcryptorchidismgonadotrophinshuman chorionic gonadotrophinoestrogen therapyorchidopexypelvic ultrasoundprimary hypogonadismpubertytestosterone therapy

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