What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?

Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration.

38,XX-DSD(SRY^(-))间性猪分子病因学的研究进展

生猪种业是国家战略性、基础性核心产业,其为养猪业的长期稳定发展提供了重要支撑。具有XX染色体型的性别发育异常(Disorder of Sex Development with XX karyotype,XX-DSD)的间性猪,其生殖系统异常发育,严重制约了种猪的高效生产,影响了生猪养殖的经济效益。建立间性猪的精准分子诊断技术能确保引种优化和种猪遗传改良,为人类性别发育异常提供动物模型,助力农用猪和医用猪的高质量发展。本文综述了人类及其他模式动物XX-DSD的分类、调控因素和候选基因变异,重点阐述了间性猪的分类、表征、遗传力和分子遗传研究,以期为间性猪的遗传诊断提供重要的理论参考。

先天性肾上腺皮质增生症致46,XX性发育异常患儿性别选择影响因素研究进展

先天性肾上腺皮质增生症(CAH)致46,XX男性化为性发育异常(DSD)最常见的类型,患儿具有卵巢和苗勒氏管衍生物(子宫、输卵管、阴道上1/3段),外生殖器表现为不同程度的男性化。目前CAH致46,XX DSD的性别分配指南仍推荐为女性,这对于CAH致46,XX DSD有严重男性化生殖器(Prader IV或Prader V)的患儿是最具挑战性的,因此,性别选择是决定CAH致46,XX男性化患儿最终治疗效果的最关键一环。性别选择时应考虑生殖器男性化畸形程度,治疗方法的选择及效果,性功能和生育潜力,心理发育评估以及社会文化,家庭观念,生活风俗等影响因素,需要多学科团队(MDT)支持下,应结合家属和(或)患儿本人意见,作出合理的性别分配,在此基础上,本文对CAH致46,XX男性化患儿性别选择影响因素以及主要进展进行了综述。