CAJ | 학술논문

目的总结一例失盐型3β-羟类固醇脱氢酶(3βHSD)缺乏症患儿的临床特点及HSD3B2基因突变结果,并结合文献分析,以提高临床医生对该病的认识.方法 2013年8月广州市妇女儿童医疗中心采用PCR及DNA直接测序法对1例13岁女性失盐型先天性肾上腺皮质增生症(CAH)伴反复卵巢囊肿患儿进行HSD3 B2基因分析,回顾患儿临床资料,并进行文献复习.结果 13岁女孩,新生儿期因失盐及轻度阴蒂肥大诊断为CAH,并予糖皮质激素替代治疗.9岁乳房发育,12岁月经初潮,初潮后曾因反复卵巢囊肿先后行腹腔镜手术及卵巢囊肿穿刺术,最大囊肿90 mm ×80 mm×80 mm.身高165 cm,体重55 kg,皮肤黝黑,氢化可的松替代治疗中血浆ACTH 17.10 pmol/L(参考值0 ～ 10.12 pmol/L),血清睾酮1.31 nmol/L(参考值＜0.7 nmol/L),硫酸脱氢表雄酮13.30μmol/L(参考值0.95 ～ 11.67 μmol/L),皮质醇720 nmol/L(参考值130 ～ 772.8 nmol/L),雄烯二酮、孕酮及17-羟孕酮正常,卵泡期雌二醇461 pmol/L,卵泡刺激素3.04 IU/L,黄体生成素8.52 IU/L.盆腔超声显示右侧附件58 mm×50 mm×35 mm卵巢囊肿,左侧卵巢正常及中期子宫内膜.HSD3B2基因分析显示2号外显子存在新纯合无义突变c.73G＞ T(p.E25X),母亲为该突变携带者,生物学父亲未见异常.结论女性经典型3βHSD缺乏症的临床特点为早期起病的失盐型CAH伴轻微男性化,青春期可出现月经紊乱及卵巢囊肿.基因型p.E25X新突变与经典失盐型3βHSD缺乏症有关.
목적 총결일례실염형3β-간류고순탈경매(3βHSD)결핍증환인적림상특점급HSD3B2기인돌변결과,병결합문헌분석,이제고림상의생대해병적인식.방법 2013년8월엄주시부녀인동의료중심채용PCR급DNA직접측서법대1례13세녀성실염형선천성신상선피질증생증(CAH)반반복란소낭종환인진행HSD3 B2기인분석,회고환인림상자료,병진행문헌복습.결과 13세녀해,신생인기인실염급경도음체비대진단위CAH,병여당피질격소체대치료.9세유방발육,12세월경초조,초조후증인반복란소낭종선후행복강경수술급란소낭종천자술,최대낭종90 mm ×80 mm×80 mm.신고165 cm,체중55 kg,피부유흑,경화가적송체대치료중혈장ACTH 17.10 pmol/L(삼고치0 ～ 10.12 pmol/L),혈청고동1.31 nmol/L(삼고치＜0.7 nmol/L),류산탈경표웅동13.30μmol/L(삼고치0.95 ～ 11.67 μmol/L),피질순720 nmol/L(삼고치130 ～ 772.8 nmol/L),웅희이동、잉동급17-간잉동정상,란포기자이순461 pmol/L,란포자격소3.04 IU/L,황체생성소8.52 IU/L.분강초성현시우측부건58 mm×50 mm×35 mm란소낭종,좌측란소정상급중기자궁내막.HSD3B2기인분석현시2호외현자존재신순합무의돌변c.73G＞ T(p.E25X),모친위해돌변휴대자,생물학부친미견이상.결론 녀성경전형3βHSD결핍증적림상특점위조기기병적실염형CAH반경미남성화,청춘기가출현월경문란급란소낭종.기인형p.E25X신돌변여경전실염형3βHSD결핍증유관.
Objective 3 β-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.Method 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.Result 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.Conclusion 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.