一名46,XY女性青少年青春期男性化中类固醇生成因子-1的新型杂合突变。

A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.

作者信息

Sıklar Zeynep, Berberoğlu Merih, Ceylaner Serdar, Çamtosun Emine, Kocaay Pınar, Göllü Gülnur, Sertçelik Ayşe, Öcal Gönül

机构信息

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

出版信息

J Pediatr Adolesc Gynecol. 2014 Apr;27(2):98-101. doi: 10.1016/j.jpag.2013.06.006. Epub 2013 Nov 12.

DOI:10.1016/j.jpag.2013.06.006

PMID:24231572

Abstract

BACKGROUND

Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties.

CASE

The present case report describes the clinical, histopathologic, and genetic characteristics of a 46,XY case, who was born with a female phenotype and raised as a girl, presented with findings of virilization in the pubertal period. She had no germ cells and very few Leydig cells with atrophic testis on biopsy and in whom a novel heterozygous mutation in the SF-1 gene (a heterozygous 7-bp deletion mutation in exon 7 [c.1308-1314del7bp] causing frameshift) was identified.

SUMMARY AND CONCLUSION

Although the gonads are very dysgentic in patient with SF-1 mutations, sufficient androgen synthesis can cause severe virilization during puberty.

摘要

背景

类固醇生成因子-1（SF-1）基因（NR5A1）突变会因性腺发育不全导致性发育障碍，尤其是在46,XY个体中。在出现这种突变的病例中，表型是异质性的，可能在从完全女性外观到不育男性的范围内有所不同。在青春期年龄组的一些病例中观察到的男性化可能会导致诊断困难。

病例

本病例报告描述了一名46,XY个体的临床、组织病理学和遗传学特征，该个体出生时具有女性表型并被当作女孩抚养，在青春期出现男性化表现。活检显示她没有生殖细胞，睾丸萎缩，几乎没有Leydig细胞，并且在其体内鉴定出SF-1基因中的一种新的杂合突变（外显子7中的杂合7bp缺失突变[c.1308-1314del7bp]导致移码）。