Endocrine Abstracts

JOINT926

Introduction: Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 gene. It gives rise to ambiguous genitalia in 46,XX fetuses. At puberty, affected girls have hypergonadotropic hypogonadism, do not develop secondary sexual characteristics, and exhibit progressive virilization Case: 16 years old girl who was referred to a urologist in our institution at the beginning of 2020 (she was 12 years old then) as a case of ambiguous genitalia for genital construction surgery. She is a product of full term normal vaginal delivery, no history of maternal virilization during pregnancy. Ambiguous genitalia was diagnosed at birth, her chromosomal analysis confirmed 46 XX genetic sex. No genital constructive surgery done at early life, the parent raise her as a girl and they lost follow up. When she was 12 years old the mother seeks medical advice due to primary amenorrhea Unfortunatly she lost follow up due to Covid pandemic. Presented again in 2022. Family history: Parents are first degree relatives History of one female maternal cousin with ambiguous genitalia Examination: Height: 160cm (on the 25 percentile) Weight 65 kg (above 90 percentile) She has hirsutism with Acanthosis nigricans No breast development Genitalia Examination: Clitromegaly Fusion of labioscrotal fold Laboratory investigations: Estradiol less than 18 pmol/l(22-2-5) LH 18.3 IU/l(1.0-11.1) FSH 30 IU/l(0.87---8.8) Total testesteron 0.76 nmol/l(0.069-2.71) Free testesteron index 1.56 (0.5-6.5) DHEAS 4.1 micmol/l(1.7-9.9) Pelvic US The uterus and ovaries are not clearly visualized. Pelvic MRI A thin vertically oriented fluid filled structure is noted behind the urinary bladder, It measured 2.3x.2.2 cm and is thought to be mullerian duct remnant. No normal vaginal wall or lumen could be visualized. There are two oval structures identified in the lower part of the pelvis, measure 1.2 x0.8 cm in the right and 1.9x0.8 on the left thought to be ovaries, few tiny bilateral follicles are present largest measures 3.1mm. Examination under anesthesia: Common urogenital sinus 3 cm with 2 opening. Short vagina with underdeveloped wall The distance from external common urogenital opening till vaginal opening is 3.5 cm (high confluence) Genetics study showed: A homozygous pathogenic variant was identified in the CYP19Ai gene. Patient was started on oral estrogen Follow up MRI showed increase in the size of vagina and uterus so the patient was planned for genital constructive surgery.

Conclusions: This is a case of aromatase deficiency with late diagnosis at adolescent.