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Title: Testicular histology in boys with Prader-Willi syndrome: fertile or infertile?
Authors: Vogels, Annick ×
Moerman, Philippe
Fryns, Jean-Pierre
Bogaert, Guy #
Issue Date: Oct-2008
Publisher: ELSEVIER SCIENCE INC
Series Title: Journal of Urology vol:180 issue:4 Suppl pages:1800-1804
Abstract: PURPOSE: Prader-Willi syndrome is associated with hypogonadism. Cryptorchidism is found in 93% of cases and considered a phenotypic criterion. Men with Prader-Willi syndrome are thought to be infertile. To study the fertility probability in boys with Prader-Willi syndrome we analyzed testicular histology in 8 prepubertal boys and 1 man. MATERIALS AND METHODS: Eight boys 16 months to 14 years old with a proven molecular diagnosis of Prader-Willi syndrome, including 6 with a deletion on chromosome 15 and 2 with uniparental maternal disomy of chromosome 15, underwent orchiopexy and the man underwent unilateral orchiectomy. Prepubertal testes were classified into 4 Nistal categories according to mean tubular diameter, the tubular fertility index (average percent of tubules containing spermatogonia) and the Sertoli's cell index. RESULTS: Two of 8 prepubertal boys showed a favorable Nistal score of I, 1 showed a Nistal score of II and 5 showed a Nistal score of III. The testis in the man showed diffuse tubular atrophy with tubular hyalinization, a Sertoli's cell nodule, vacuolized Leydig cells, peritubular hyalinization and small tubuli. CONCLUSIONS: Prader-Willi syndrome appears to be a heterogenic disorder with respect to testicular histology. Although most boys showed absent spermatogonia, 2 of 8 had normal testicular histology. Therefore, it is suggested that it is uncertain what the fertility outcome is in boys with Prader-Willi syndrome.
URI: 
ISSN: 0022-5347
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Urology Section (-)
Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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