Huang Yonglan, Zheng Jipeng, Xie Ting, Xiao Qing, Lu Shaomei, Li Xiuzhen, Cheng Jing, Chen Lihe, Liu Li
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
Zhonghua Er Ke Za Zhi. 2014 Dec;52(12):948-51.
3β- hydroxysteroid dehydrogenase deficiency (3βHSD), a rare form of congenital adrenal hyperplasia (CAH) resulted from mutations in the HSD3B2 gene that impair steroidogenesis in both adrenals and gonads. We report clinical features and the results of HSD3B2 gene analysis of a Chinese pubertal girl with salt wasting 3βHSD deficiency.
We retrospectively reviewed clinical presentations and steroid profiles of the patient diagnosed in Guangzhou Women and Children's Medical Center in 2013. PCR and direct sequencing were used to identify any mutation in the HSD3B2 gene.
A 13-year-old girl was diagnosed as CAH after birth because of salt-wasting with mild clitorimegaly and then was treated with glucocorticoid replacement. Breast and pubic hair development were normal, and menarche occurred at 12 yr, followed by menstrual bleeding about every 45 days. In the last one year laparoscopic operation and ovariocentesis were performed one after another for recurrent ovary cysts. Under corticoid acetate therapy, ACTH 17.10 pmol/L (normal 0-10.12), testosterone 1.31 nmol/L (normal <0.7), dehydroepiandrosterone sulfate 13.30 µmol/L (normal 0.95 - 11.67), cortisol 720 nmol/L (normal 130-772.8), androstenedione, 17-hydroxyprogesterone and progesterone were normal. Estradiol 461 pmol/L, follicle-stimulating hormone 3.04 IU/L, luteinizing hormone 8.52 IU/L in follicular phase. A pelvic ultrasound showed lateral ovaries cysts (58 mm × 50 mm × 35 mm) and a midcycle-type endometrium. A novel nonsense mutation c.73G >T (p.E25X) was identified in HSD3B2 gene. The girl was homozygous and her mother was heterozygous, while her father was not identified with this mutation.
A classic 3βHSD deficiency is characterized by salt wasting and mild virilization in female. Ovary cysts may be the one of features of gonad phenotype indicating ovary 3βHSD deficiency. A novel homozygous mutation c.73G >T(p.E25X) was related to the classical phenotype.
3β-羟类固醇脱氢酶缺乏症（3βHSD）是先天性肾上腺皮质增生症（CAH）的一种罕见形式，由HSD3B2基因突变引起，该突变损害肾上腺和性腺的类固醇生成。我们报告了一名患有失盐型3βHSD缺乏症的中国青春期女孩的临床特征及HSD3B2基因分析结果。
我们回顾性分析了2013年在广州妇女儿童医疗中心确诊的该患者的临床表现和类固醇谱。采用聚合酶链反应（PCR）和直接测序法鉴定HSD3B2基因中的任何突变。
一名13岁女孩出生后因失盐伴轻度阴蒂肥大被诊断为CAH，随后接受糖皮质激素替代治疗。乳房和阴毛发育正常，12岁月经初潮，之后约每45天有一次月经出血。在过去一年中，因反复出现卵巢囊肿先后进行了腹腔镜手术和卵巢穿刺术。在醋酸皮质醇治疗下，促肾上腺皮质激素（ACTH）为17.10 pmol/L（正常范围0 - 10.12），睾酮为1.31 nmol/L（正常范围<0.7），硫酸脱氢表雄酮为13.30 µmol/L（正常范围0.95 - 11.67），皮质醇为720 nmol/L（正常范围130 - 772.8），雄烯二酮、17-羟孕酮和孕酮正常。卵泡期雌二醇为461 pmol/L，促卵泡生成素为3.04 IU/L，促黄体生成素为8.52 IU/L。盆腔超声显示双侧卵巢囊肿（58 mm×50 mm×35 mm）及月经中期类型的子宫内膜。在HSD3B2基因中鉴定出一个新的无义突变c.73G>T（p.E25X）。该女孩为纯合子，其母亲为杂合子，而其父亲未检测到该突变。
典型的3βHSD缺乏症的特征为女性失盐和轻度男性化。卵巢囊肿可能是性腺表型的特征之一，提示卵巢3βHSD缺乏。一个新的纯合突变c.73G>T（p.E25X）与经典表型相关。
