伊朗的宫内生长受限合并生殖器模糊：一例报告

IUGR ambiguous genitalia in Iran: a case report.

作者信息

Shirvani Mahsa, Alipour Marzyeh, Mortajez Ahmad Reza

机构信息

Department of Midwifery, Obstetrics and Gynecology, Vali-e-Asr Hospital, Kazerun, Iran.

Department of Genetics, Colleague of Science, Kazerun Branch, Islamic Azad University, Kazerun, 7319637777, Iran.

出版信息

J Med Case Rep. 2025 Apr 10;19(1):169. doi: 10.1186/s13256-025-05214-1.

DOI:10.1186/s13256-025-05214-1

PMID:40211359

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11983729/

Abstract

BACKGROUND

Pericentric inversion of Chromosome 9 is a common chromosomal abnormality, occasionally linked to clinical conditions such as ambiguous genitalia, warranting its inclusion in differential diagnoses. Sexual ambiguity is a tragic and highly distressing condition that imposes deep emotional and spiritual concerns on the family. Therefore, it is essential to adopt a rational and immediate approach, including clinical, hormonal, genetic, molecular, and radiographic investigations, to determine its cause and guide the therapeutic strategy.

CASE PRESENTATION

A 35-year-old gravida 1 Iranian woman at 37 weeks of pregnancy delivered a 1900-g newborn via cesarean section due to intrauterine growth restriction. The newborn exhibited ambiguous genitalia, including severe hypospadias and a micropenis. Karyotyping revealed a normal chromosomal count with a pericentric inversion of Chromosome 9 (46XY, inv (9) (p12q13)). Hormonal and ultrasound evaluations were normal, and no family history of sexual development disorders was noted.

CONCLUSION

Pericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.

摘要

背景

9号染色体臂间倒位是一种常见的染色体异常，偶尔与诸如两性生殖器畸形等临床病症相关，因此有必要将其纳入鉴别诊断。性器官模糊是一种悲惨且令人极度痛苦的病症，给家庭带来了深刻的情感和精神困扰。因此，必须采取合理且及时的方法，包括临床、激素、基因、分子和影像学检查，以确定其病因并指导治疗策略。

病例报告

一名35岁的伊朗初产妇，怀孕37周时因胎儿宫内生长受限行剖宫产分娩出一名体重1900克的新生儿。该新生儿表现出两性生殖器畸形，包括重度尿道下裂和小阴茎。染色体核型分析显示染色体数目正常，伴有9号染色体臂间倒位（46XY，inv(9)(p12q13)）。激素和超声评估均正常，且未发现性发育障碍的家族史。