46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the PROKR2 Gene: A Case Report.

46 XX 睾丸性发育障碍与促性腺激素释放激素受体,PROKR2 基因的常染色体隐性杂合错义突变和常染色体显性杂合错义突变 ： 一例。

• 发表时间: 2024 Sep
• 来源期刊: Glob Med Genet
• DOI: 10.1055/s-0044-1788060
• PMID: 38988852
• 文章类型: Case Reports
• 作者列表: Peranzoni F,De Castro R,Merlini E,Nguyen YL

关键词: Kallmann syndrome; disorder of sex development; ovotestis

Abstract

True hermaphroditism is a disorder of sex development (DSD), accounting for less than 5% of all DSD cases, defined by the simultaneous presence of testicular tissue and ovarian tissue in the same individual. In the reported case, the patient presented two genetic mutations involved in the pathogenic pathway of the DSD condition associated with the clinical features of Kallmann syndrome (KS), a developmental disease that associates hypogonadotropic hypogonadism (HH), due to gonadotropin-releasing hormone deficiency, and anosmia, related to the absence or hypoplasia of the olfactory bulbs. Given the variable degree of hyposmia in KS, the distinction between KS and normosmic idiopathic HH is currently unclear, especially as HH patients do not always undergo detailed olfactory testing. This syndrome is very rare, with an estimated prevalence of 1:80,000 in males and 1:40,000 in females. This is the only case report concerning a patient with 46 XX true hermaphroditism affected by HH and digenic inheritance of Kallmann syndrome.

摘要

真正的雌雄同体是一种性发育障碍（DSD），占所有DSD病例的不到5%，由睾丸组织和卵巢组织同时存在于同一个体中定义。在报告的案例中，患者出现了两个与Kallmann综合征（KS）临床特征相关的DSD疾病致病途径相关的基因突变，与低促性腺激素性性腺功能减退症（HH）相关的发育疾病，由于促性腺激素释放激素缺乏，和嗅觉缺失，与嗅球的缺失或发育不全有关。考虑到KS中不同程度的失足,KS和正常特发性HH之间的区别目前尚不清楚，尤其是HH患者并不总是接受详细的嗅觉测试.这种综合症非常罕见，估计男性患病率为1:80,000，女性患病率为1:40,000。这是唯一的病例报告，涉及46XX真两性畸形患者，受HH和Kallmann综合征的双基因遗传影响。