背景:性发育障碍/差异(DSD)包括一组不同的先天性疾病,其中染色体发育,性腺,或者解剖学上的性别不和谐。它涉及几个变异基因,其中一个是NR5A1。NR5A1编码下丘脑-垂体-性腺和下丘脑-垂体-肾上腺途径中的信号转导调节因子,该基因的致病性突变是46,XYDSD的原因。
方法:一名12岁女孩因多毛症和深沉的声音从11岁开始入院。个体表现为睾丸发育不全,阴蒂肥大,和女性外生殖器。
方法:患者诊断为46,XY部分性腺发育不全。细胞遗传学显示46,XY核型,DNA测序显示NR5A1中的变体。盆腔磁共振成像显示子宫和卵巢缺失。腹盆腔超声显示双侧腹股沟双侧睾丸。病理学证实睾丸发育不全。
方法:患者在12岁时接受了双侧睾丸切除术,并接受了0.5mg/天戊酸雌二醇片的女性化激素治疗。
结果:患者在手术和激素治疗后恢复良好,多毛症和阴蒂肿大消退。
结论:46,XYDSD是一种罕见的染色体发育疾病,性腺,或者解剖学上的性别不和谐,当诊断46,XYDSD,应考虑NR5A1变体的鉴定。
BACKGROUND: Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD.
METHODS: A 12-year-old individual raised as a girl was admitted to the hospital due to hirsutism and a deep voice that began at 11 years old. The individual exhibited testicular hypoplasia, clitoral hypertrophy, and female external genitalia.
METHODS: The patient was diagnosed 46,XY partial gonadal dysgenesis. The cytogenetics revealed a 46,XY karyotype and DNA sequencing shown a variant in NR5A1. Pelvic magnetic resonance imaging showed absence of uterus and ovaries. The abdominopelvic ultrasound revealed bilateral testicle in bilateral groin. Pathology confirmed testes dysgenesis.
METHODS: The patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets.
RESULTS: The patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly.
CONCLUSIONS: 46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.