SAT-464 - Management of Non-classical Congenital Adrenal Hyperplasia in Early Pregnancy: A Case of Worsening Hyperandrogenism

Introduction:  
Non-classical congenital adrenal hyperplasia (NCAH) is a mild form of 21-hydroxylase deficiency (21OHD) in which partial enzyme activity is preserved. Patients present with features of excess androgen production, including premature pubarche, hirsutism, irregular menstrual cycles, and acne. While fertility is often preserved, untreated NCAH has been associated with higher rates of early pregnancy loss in observational studies, raising questions about optimal management during pregnancy.

Case Description:  
A 24-year-old female with history of congenital hypothyroidism on levothyroxine 25 mcg since the age of 9 and NCAH presented at 8 weeks gestation for endocrinology evaluation. Menarche occurred at the age of 9, and menstrual cycles were regular prior to pregnancy.  She noted new-onset facial hirsutism since early pregnancy. She was on hydrocortisone until the age of 18 when her pediatric endocrinologist recommended discontinuing.  No prior genetic testing had been performed. Prior abdominal computed tomography demonstrated normal adrenal glands, and obstetric pelvic ultrasound showed no ovarian lesions, with no imaging features suggestive of an androgen-secreting tumor. Laboratory evaluation revealed cortisol of 19.7 mcg/dL (3.4-22.5 mcg/dL), adrenocorticotropic hormone of 25.5 pg/mL (7.2-63.0 pg/mL), 17-hydroxyprogesterone of 566.67 ng/dL (<=206 ng/dL), DHEA Sulfate of 492 mcg/dL (8-391 mcg/dL), total testosterone (LC-MS/MS) of 91 ng/dL (9-55 ng/dL). Pre-pregnancy labs showed total testosterone (LC-MS/MS) of 47 ng/dL (6-50 ng/dL), DHEA Sulfate of 345 ug/dl (22-255 ug/dl), 17-hydroxyprogesterone of 368 ng/dL (9-208 ng/dL). She was started on hydrocortisone 10 mg twice daily with plans for stress-dose hydrocortisone during delivery. Genetic counseling and referral to maternal-fetal medicine were arranged.   

Discussion/

Conclusion:  
Pregnancy may unmask or worsen hyperandrogenism in patients with NCAH, creating management uncertainty given limited pregnancy-specific guidance. In this patient, early gestation was associated with new hirsutism and rising androgen precursors, prompting initiation of glucocorticoid therapy. For maternal treatment, hydrocortisone (or prednisone/prednisolone) is preferred because these agents are largely inactivated by placental metabolism, whereas dexamethasone crosses the placenta and is generally avoided. Observational data suggest miscarriage rates may be higher in untreated NCAH and may be lower with glucocorticoid therapy. This case highlights the importance of early endocrine involvement, timely initiation of pregnancy-appropriate glucocorticoids when clinically indicated, coordination with maternal-fetal medicine for stress-dose planning at delivery, and genetic counseling (including consideration of partner testing) to clarify fetal risk for classic CAH.

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