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Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.
J Clin Endocrinol Metab 2009; 94(7):2262-8JC

Abstract

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.

Authors+Show Affiliations

Neuropediatric Unit, Department of Pediatrics, Shaare Zedek Medical Center, the Hebrew University, Jerusalem 91031, Israel. hirschmd@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19401370

Citation

Hirsch, Harry J., et al. "Primary Testicular Dysfunction Is a Major Contributor to Abnormal Pubertal Development in Males With Prader-Willi Syndrome." The Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 7, 2009, pp. 2262-8.
Hirsch HJ, Eldar-Geva T, Benarroch F, et al. Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab. 2009;94(7):2262-8.
Hirsch, H. J., 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. The Journal of Clinical Endocrinology and Metabolism, 94(7), pp. 2262-8. doi:10.1210/jc.2008-2760.
Hirsch HJ, et al. Primary Testicular Dysfunction Is a Major Contributor to Abnormal Pubertal Development in Males With Prader-Willi Syndrome. J Clin Endocrinol Metab. 2009;94(7):2262-8. PubMed PMID: 19401370.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. AU - Hirsch,Harry J, AU - Eldar-Geva,Talia, AU - Benarroch,Fortu, AU - Rubinstein,Orit, AU - Gross-Tsur,Varda, Y1 - 2009/04/28/ PY - 2009/4/30/entrez PY - 2009/4/30/pubmed PY - 2009/8/7/medline SP - 2262 EP - 8 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 94 IS - 7 N2 - 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. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/19401370/Primary_testicular_dysfunction_is_a_major_contributor_to_abnormal_pubertal_development_in_males_with_Prader_Willi_syndrome_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2008-2760 DB - PRIME DP - Unbound Medicine ER -