Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.

Lijun Fan Beibei Zhang Lele Li Chunxiu Gong

Published in: Clinical endocrinology (2020)

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.

Keyphrases

pregnant women
young adults
copy number
birth weight
preterm birth
pregnancy outcomes
dna methylation
physical activity
weight gain