Sertoli cell only syndrome with ambiguous genitalia

被引：4

作者：

Gurbuz, Fatih ^{[1
]}

Ceylaner, Serdar ^{[2
]}

Erdogan, Seyda ^{[3
]}

Topaloglu, Ali Kemal ^{[4
]}

Yuksel, Bilgin ^{[4
]}

机构：

[1] Ankara Pediat Hematol & Oncol Training & Res Hosp, Pediat Endocrinol, TR-06130 Ankara, Turkey

[2] Intergen Genet Ctr, Clin Med Genet, Ankara, Turkey

[3] Cukurova Univ, Pathol, Adana, Turkey

[4] Cukurova Univ, Pediat Endocrinol, Adana, Turkey

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2016年 / 29卷 / 07期

关键词：

ambiguous genitalia; Sertoli cell only syndrome; SRY; 46; XX boy; INFERTILITY; REGION;

D O I：

10.1515/jpem-2015-0458

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 SRY 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).

引用

页码：849 / 852

页数：4

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