ESPE Abstracts

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in CYP19A1, c.575G>C p. (Arg192Pro).

Case Summary: A 10-day old neonate presented with concern of atypical genitalia. Baby was born full term with birth weight of 3.8 kg to consanguineous parents with one elder male sibling alive and healthy. Family history was insignificant for atypical genitalia. There was significant history of maternal virilization during pregnancy in the form of severe acne, hirsutism, and hoarseness of voice. Mother had taken only multivitamins during pregnancy and all antenatal scans were normal. On examination, baby was well looking with no signs of dehydration and pigmentation. Genital examination showed stretch phallus length of 2 cm, partially fused labio-scrotal folds, single urogenital opening, and no gonads palpable. On investigation Karyotype was 46, XX with ultrasound showing uterus and ovaries. Sodium and potassium were normal, 17-OH -progesterone 8.87 ng/ml, cortisol 21.18 mg /dl, LH 0.55 mIU/ml, FSH 44.21 mIU/ml, testosterone <2.50 mg /dl, AMH 0.055 ng/ml. Maternal workup revealed normal ACTH, 17-OH-progesterone, DHEA sulphate, and normal ultrasound. However, her testosterone was slightly raised. Genetic assay revealed baby is carrying homozygous variant of CYP19A1 gene c.575G>C p. (Arg192Pro) which is a novel mutation causing aromatase deficiency

Conclusion: We conclude that history of maternal virilization during pregnancy in infant born with atypical genitalia should alert physician to consider aromatase deficiency.