SAT-456 - Use of Crinecerfont in Non-Classical 3 Beta CAH, Case Report.

Background: crinecerfont was approved for classical 21OH Congenital Adrenal Hyperplasia (CAH) in 12/2024 and became available for patients in 2/2025. It is selectively blocks corticotropin-releasing factor type 1 (CRF1) receptors in the pituitary gland and reduces the secretion of adrenocorticotropic hormone (ACTH), thereby lowering the adrenal glands' overproduction of androgens.
Goal of this study is to present the case of currently 11 yo girl with non-classical 3-beta-hydroxysteroid dehydrogenase deficiency (3beta) CAH).

Case: Currently 11 yo female with history of Hypothyroidism, on levothyroxinesince since age 2.
She started developing breast buds at age 7 years old, her BMI was 15.86 kg/m². Due to that and family history of adrenal insufficiency due to non-classical 3 beta CAH in mother the patient was worked up for 3beta CAH.
She was found to have elevation of 17OH Pregnenolone
17 OH Pregnenolone, Serum, MS 272 ng/dL High Reference Range: 6 - 9y: 10 - 186
17-OH Progesterone LCMS 60 ng/dL 0-90
Dehydroepiandrosterone (DHEA) 146 ng/dL High 0-110
Androstenedione LCMS 30 ng/dL Age Female 2 - 8 years 0 - 67
Estradiol < 5
FSH 2.8 mIU/m
LH < 0.3 mIU/mL
Aldosterone 5.2 ng/dL 5.0-80.0
Renin Activity, Plasma 0.734 ng/mL/hr 0.500-5.900 02
Aldos/Renin Ratio 7.1 0.0-30.0
Normal Insulin and Peptide.
At age 9 she was found to have estrogen elevation (Estradiol 55.4 pg/mL High 6.0-27.0 01 Girls (1-10 years) 6.0 - 27.0) and LH 2.1 mIU/mL 0.0-3.1.
At age 9y &10/12 yo mother reported more pubertal changes: pubic hair, axillary hair and breast buds, Tanner stage 2.
She was started on crinecerfont in 2/2025 ( age 10 and 3/12yo). At age 10&11/12 she is still on crinecerfont. She has no side effects., no adrenal insufficiency symptoms. Has no salt cravings or fatigue. Patient is progressing further with her pubertal changes, but have not developed menarche yet. Her 17OH Prednenolone and DHEA have improved. We suggested carefully monitoring for AI sms. She has hydrocortisone on hands.

Conclusion: crinecerfont can be of value for non classical 3Beta CAH to potentially reduce hyperandrogegism and if started early enough-premature pubarche. In our case it may not have slowed the pubertal progression, but prevented hyperandrogenic symptoms.
Careful monitoring has to be done for signs of AI.
More studies are needed for use of crinecerfont in different types of non-classical CAH.

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