FRI243 Hypertension And Virilization In A 4 Year Old Female

Disclosure: E. Ismail: None. J.L. Miller: None. A.V. Bernier: None. Background: Congenital adrenal hyperplasia (CAH) is the most common cause of virilization of an XX female neonate. More than 95% of CAH cases are due to 21 hydroxylase deficiency which is detected in the newborn screen by detection of elevated 17 hydroxyprogesterone (17 OHP). 11 beta hydroxylase deficiency (11 BOHD) is the second most common cause of CAH, but considered extremely rare accounting for only 0.2-8% of cases. 11-BOHD is not part of the newborn screen, as it does not present with life-threatening salt wasting crisis. Hypertension (HTN) is observed in 2/3 of cases and is due to mineralocorticoid excess in the form of deoxycorticosterone (DOC). Therefore, 11-BOHD should be strongly considered in a virilized female with HTN and accelerated growth. Clinical case: 4-year-old female admitted for evaluation of severe persistent HTN. She had surgical repair of posterior labial fusion at 5 months of age. She was seen at 21 months of age for concerns of precocious puberty and virilization. Her work up included XX karyotype, 17 OHP and electrolytes within normal limits, however, she had an elevated DHEAS and testosterone level, with a bone age of 5 years at 21 months of age. Hypertension was recorded at the visit, but she was lost to follow up. At a primary care appointment her blood pressure was notably elevated, so she was sent to the ED. On admission, she was found to have both weight and height >99% for age, hyperpigmentation of gums and scars, and virilization (clitoromegaly with tanner 3 pubic hair). She had no thelarche. Initial hormonal evaluation revealed prepubertal gonadotropins, low aldosterone and low plasma renin activity. High dose ACTH stimulation test revealed elevated 11 deoxycortisol and 11 deoxycorticosterone levels. Her peak stimulated cortisol was inadequate at 8.7 mcg/dl (normal=>18 mcg/dl). Genetic testing for CAH revealed compound heterozygosity for 2 variants in the CYP11B1 gene, confirming the diagnosis of 11-BOHD. She was started on hydrocortisone replacement (12 mg/m2/day) and required spironolactone to achieve adequate blood pressure control. At the time of diagnosis, her father reported that he also had hypertension before 10 years of age, as well as early puberty, and significantly darker skin color than his family members. Conclusions: The HTN seen with 11-OHD is associated with suppressed aldosterone/renin activity and hypokalemia and is responsive to glucocorticoid therapy. However, this cause of CAH is not included in the newborn screen so can go unrecognized until features of virilization and rapid growth with bone age advancement are noted. If HTN is persistent despite glucocorticoid treatment, spironolactone is the preferred antihypertensive, as it is both a mineralocorticoid and androgen receptor antagonist. This case serves as a reminder to pay attention to BP at every clinic visit. Presentation: Friday, June 16, 2023