| Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. | |
| | |
MedLine Citation:
|
PMID: 19401370 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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:
|
Harry J Hirsch; Talia Eldar-Geva; Fortu Benarroch; Orit Rubinstein; Varda Gross-Tsur |
Publication Detail:
|
Type: Journal Article Date: 2009-04-28 |
Journal Detail:
|
Title: The Journal of clinical endocrinology and metabolism Volume: 94 ISSN: 1945-7197 ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2009 Jul |
Date Detail:
|
Created Date: 2009-07-08 Completed Date: 2009-08-06 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
|
Languages: eng Pagination: 2262-8 Citation Subset: AIM; IM |
Affiliation:
|
Neuropediatric Unit, Department of Pediatrics, Shaare Zedek Medical Center, the Hebrew University, Jerusalem 91031, Israel. hirschmd@gmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Androgens / blood Child Child, Preschool Follow-Up Studies Humans Hypogonadism / etiology Hypothalamo-Hypophyseal System / physiology Infant Male Prader-Willi Syndrome / complications*, physiopathology Puberty / physiology* Sex Differentiation Disorders / etiology*, physiopathology Sex Hormone-Binding Globulin / analysis Testicular Diseases / complications*, physiopathology Testis / growth & development, physiology Young Adult |
| Chemical | |
Reg. No./Substance:
|
0/Androgens; 0/Sex Hormone-Binding Globulin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Role of unilateral adrenalectomy in bilateral primary aldosteronism: a 22-year single center experie...
Next Document: The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome.