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• W3039311941 abstract "Abstract Background Aromatase deficiency (AD) caused by cytochrome P450 family 19 subfamily A polypeptide 1 ( CYP19A1 ) variants is characterized by a deficiency in androgen‐to‐oestrogen conversion. Objective To investigate the clinical characteristics and accurate management of aromatase‐deficient children. Patients and methods We described three 46, XX aromatase‐deficient children, searched PubMed with “(aromatase deficiency) AND (46, XX OR ovaries)” and manually searched citations in identified studies for the literature review. Results Two girls and one boy (3.4‐9.2 years) with the 46, XX karyotype presented ambiguous genitalia and maternal antenatal virilization, normal‐low height, delayed bone age, normal glucose and lipid profiles, markedly elevated follicle‐stimulating hormone (FSH) levels and poor oestradiol responses to human menopausal gonadotropin stimulation. Ultrasound revealed normal‐sized uterus and ovaries with undetectable follicles. Histopathology revealed primordial follicles and few primary follicles in ovaries. One patient presented granulosa and follicular membrane cell proliferation and interstitial sclerosis. We identified four CYP19A1 variants; c.146_158del and c.344G >A were unreported. We reviewed available data from thirty 46, XX patients (0.2‐32 years). Some patients were not diagnosed until puberty/adulthood; three were initially misdiagnosed with congenital adrenocortical hyperplasia. The main characteristics were maternal antenatal virilization (21/29), ambiguous genitalia (mainly Prader IV or III, 19/23), delayed bone age (16/17), low bone mass (5/8), markedly elevated FSH levels and ovarian cysts (13/30). Conclusions 46, XX AD is easily neglected or misdiagnosed. Ambiguous genitalia, maternal antenatal virilization and markedly elevated FSH levels are important diagnostic indicators. We described two novel variants, new histopathological features of ovaries and an early management strategy." @default.
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• W3039311941 date "2020-07-27" @default.
• W3039311941 modified "2023-10-18" @default.
• W3039311941 title "Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature" @default.
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• W3039311941 doi "https://doi.org/10.1111/cen.14277" @default.
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