Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

Journal of Ovarian Research
Dongdong WangQing Yang

Abstract

11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature adrenarche, hyperandrogenism, menstrual disorders, and hypertension. Because the symptoms of non-classical 11OHD are mild, delayed diagnosis or misdiagnosis as polycystic ovary syndrome or primary hypertension is common. This paper introduces a case of a young female patient presenting hypertension and menstrual disorders. Laboratory examination revealed increased androgen levels, mild adrenal hyperplasia, mild left ventricular hypertrophy, and mild sclerosis of the lower limb arteries. 11OHD was confirmed by genetic testing, and the patient was found to carry compound heterozygous mutations in CYP11B1 (c.583 T > C and c.1358G > A). The mutation Y195H is located in exon 3 and has not been reported previously. In silico studies indicated that this mutation may cause reduced enzymatic activity. After treatment with hydrocortisone and spironolactone, blood pressure was brought under good control, and menstruation returned to normal. We also conducted a retrospective review of previously reported cases in the literature (over 170 cases since 1991). Early diagnosis of non-classica...Continue Reading

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Citations

Sep 20, 2019·International Journal of Molecular Sciences·Federico BaronioAntonio Balsamo
Feb 12, 2021·Frontiers in Pediatrics·Yi-Ting LuXian-Liang Zhou
Apr 9, 2021·The Journal of Clinical Endocrinology and Metabolism·Melek YildizTulay Guran

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