LAUSR

Abstract Background: Aromatase deficiency (AD) is a rare autosomal recessive genetic disorder caused by loss of function mutation in CYP19A1 leading to normal androgen but low estrogen levels. As a result men with this condition have increased linear bone growth, osteoporosis, insulin resistance and glucose intolerance, dyslipidemia, and require estradiol treatment to stop growth. Non-classical CAH (NCCAH) displays variable and possibly asymptomatic androgen excess. We present a case of adolescent with genetically confirmed both of these conditions, a combination that has not been previously described, whose clinical picture is different than previously describe AD patients, as he experienced short stature and slow growth velocity. Clinical case: A 15-year-old Hispanic male presented to the Pediatric Endocrinology clinic for evaluation after his older identical twin sisters were found to have AD. His height was at the 13th percentile while his mid-parental height was at 50th percentile. A bone age performed at chronological age 15 years 2 months was consistent with 14 years, and final height prediction based on bone age was at mid-parental height. He went through puberty at age 13. His LH and FSH were both in the normal range [LH 0.8 mIU/mL (0.29-4.77 mIU/mL), FSH 3.11 mIU/mL (0.85-8.74 mIU/mL)] but estradiol was low at <2 pg/mL (