Sertoli cell only syndrome with ambiguous genitalia

The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leyd...

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Published inJournal of Pediatric Endocrinology & Metabolism Vol. 29; no. 7; pp. 849 - 852
Main Authors Gurbuz, Fatih, Ceylaner, Serdar, Erdogan, Seyda, Topaloglu, Ali Kemal, Yuksel, Bilgin
Format Journal Article
LanguageEnglish
Published Germany De Gruyter 01.07.2016
Walter de Gruyter GmbH
Subjects
46, XX Testicular Disorders of Sex Development - diagnosis
46, XX Testicular Disorders of Sex Development - genetics
46, XX Testicular Disorders of Sex Development - physiopathology
46,XX boy
ambiguous genitalia
Chromosomes, Human, X
Chromosomes, Human, Y
Consanguinity
Cytogenetic Analysis
Genes, sry
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Sertoli cell only syndrome
Sertoli Cell-Only Syndrome - etiology
Translocation, Genetic
Turkey
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Summary:The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS).
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0334-018X
2191-0251
DOI:10.1515/jpem-2015-0458