BACKGROUND: Recent studies challenge the assumption that hypogonadism in Prader-Willi syndrome (PWS) is due only to hypothalamic dysfunction. OBJECTIVES: The aims of the study were to characterize sexual development and reproductive hormones in PWS males and investigate the etiology of hypogonadism. METHODS: Physical examination and blood sampling were performed on 37 PWS males, ages 4 months to 32 yr. RESULTS: All had a history of undescended testes; age at orchiopexy ranged from 2 months to 6 yr. Pubertal signs were variable, but none achieved full genital development. Anti-Mullerian hormone (AMH) levels in PWS boys were near the lower limits of normal, decreasing from 44.4 +/- 17.8 ng/ml (mean +/- sd) in young children to 5.9 +/- 4.7 ng/ml in adolescents, similar to normal males. In contrast, inhibin B was consistently low (27.1 +/- 36.1 pg/ml) or undetectable in all age groups. In adult males, FSH levels were high (20.3 +/- 18.3 IU/liter), LH levels were normal (4.2 +/- 4.3 IU/liter), and testosterone levels were low (1.87 +/- 1.17 ng/ml). Only two adults had severe hypogonadotropic hypogonadism with undetectable levels of LH and FSH and high AMH levels (34.9 and 36.7 ng/ml), unlike the other nine adults with AMH levels 2.6 +/- 2.1 ng/ml. Androstenedione (1.06 +/- 0.30 ng/ml) and DHEAS (281.1 +/- 143.6 microg/dl) in adult PWS were normal. CONCLUSIONS: Pubertal development in PWS is characterized by normal adrenarche, variable hypothalamic dysfunction, and hypogonadism due to a unique testicular defect. Primary testicular dysfunction is a major component of hypogonadism in PWS.
BACKGROUND: Recent studies challenge the assumption that hypogonadism in Prader-Willi syndrome (PWS) is due only to hypothalamic dysfunction. OBJECTIVES: The aims of the study were to characterize sexual development and reproductive hormones in PWS males and investigate the etiology of hypogonadism. METHODS: Physical examination and blood sampling were performed on 37 PWS males, ages 4 months to 32 yr. RESULTS: All had a history of undescended testes; age at orchiopexy ranged from 2 months to 6 yr. Pubertal signs were variable, but none achieved full genital development. Anti-Mullerian hormone (AMH) levels in PWSboys were near the lower limits of normal, decreasing from 44.4 +/- 17.8 ng/ml (mean +/- sd) in young children to 5.9 +/- 4.7 ng/ml in adolescents, similar to normal males. In contrast, inhibin B was consistently low (27.1 +/- 36.1 pg/ml) or undetectable in all age groups. In adult males, FSH levels were high (20.3 +/- 18.3 IU/liter), LH levels were normal (4.2 +/- 4.3 IU/liter), and testosterone levels were low (1.87 +/- 1.17 ng/ml). Only two adults had severe hypogonadotropic hypogonadism with undetectable levels of LH and FSH and high AMH levels (34.9 and 36.7 ng/ml), unlike the other nine adults with AMH levels 2.6 +/- 2.1 ng/ml. Androstenedione (1.06 +/- 0.30 ng/ml) and DHEAS (281.1 +/- 143.6 microg/dl) in adult PWS were normal. CONCLUSIONS: Pubertal development in PWS is characterized by normal adrenarche, variable hypothalamic dysfunction, and hypogonadism due to a unique testicular defect. Primary testicular dysfunction is a major component of hypogonadism in PWS.
Authors: T N Hangartner; D F Short; T Eldar-Geva; H J Hirsch; M Tiomkin; A Zimran; V Gross-Tsur Journal: Osteoporos Int Date: 2016-07-04 Impact factor: 4.507
Authors: Romina P Grinspon; Nazareth Loreti; Débora Braslavsky; Clara Valeri; Helena Schteingart; María Gabriela Ballerini; Patricia Bedecarrás; Verónica Ambao; Silvia Gottlieb; María Gabriela Ropelato; Ignacio Bergadá; Stella M Campo; Rodolfo A Rey Journal: Front Endocrinol (Lausanne) Date: 2014-05-07 Impact factor: 5.555
Authors: Elena Monai; Anders Johansen; Erik Clasen-Linde; Ewa Rajpert-De Meyts; Niels Erik Skakkebæk; Katharina M Main; Anne Jørgensen; Rikke Beck Jensen Journal: AACE Clin Case Rep Date: 2019-08-15