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Jinetsy I. Rivera-Ortiz, MD – Endocrinology Fellow, Univeristy of Puerto Rico- Medical Science Campus

Milliette Alvarado-Santiago, MD – Attending Physician, Univeristy of Puerto Rico- Medical Science Campus

Sheila Mercado-Mendez, MD – Endocrinology Fellow, Univeristy of Puerto Rico- Medical Science Campus

Margarita Ramirez-Vick, MD – Attending Physician, University of Puerto Rico - Medical Science Campus

Loida A. Gonzalez-Rodriguez, MD – Assistant Professor, University of Puerto Rico School of Medicine - Endocrinology, Diabetes and Metabolism Division

Jinetsy I. Rivera-Ortiz, MD – Endocrinology Fellow, Univeristy of Puerto Rico- Medical Science Campus


Objective :

Congenital adrenal hyperplasias (CAHs) are autosomal recessive disorders, with the majority of cases resulting from mutation in the CYP21A2 gene, leading to 21-hydroxylase deficiency, and defective conversion of 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol. Nonclassic CAH (NCCAH) is a less severe form that can present in adult females with signs of androgen excess. Pregnancy is rare as elevated progesterone levels can affect the endometrial receptivity and contribute to delayed implantation that result on miscarriage.

Methods :  

Results :

This is the case of a 28-year-old female that presented to endocrinology clinics for evaluation of irregular menses and nipple discharge. Patient had a history of infertility; physical examination remarkable for galactorrhea, acne, hirsutism, and no evidence of ambiguous genitalia. Work up revealed an elevated prolactin level at 164 (nl 3-30ng/ml), normal thyroid function tests, and negative pregnancy test. Brain MRI identified pituitary macroadenoma measuring 1.3x1.8x1.3cm. In view of elevated prolactin levels, macroprolactinoma diagnosed and cabergoline therapy started. Subsequent normalization of prolactin was achieved, with a decrease in prolactinoma size on follow up imaging. Elevated testosterone level at 1.0 (nl 0.1-0.75ng/ml) was also discovered which raised concern for concomitant androgen disorder. Steroid work-up showed elevated baseline 17-OHP at 1,296 (nl 15-290ng/dL), testosterones at 0.81 (nl 0.1-0.75ng/ml) and androstenedione levels at 565 (nl 28-230ng/dL) with no electrolytes disturbances, and normal cortisol levels. Adrenal CT showed no adrenal lesions. A diagnosis of NCCAH was made; dexamethasone and oral contraceptives (OCPs) therapy started. On follow-up visit fertility was desired, so dexamethasone and OCPs were discontinued, and prednisone 5mg daily started. Genotyping offered, but the patient was unable to pay for the test. Three months later, the patient was pregnant with 10 weeks of gestational age. Therapy has been continued with no adverse effect reported.

Discussion :  

Conclusion :

Pregnancy in NCCAH is challenging. Very few cases of successful pregnancies have been reported using prednisolone, but little data exist with prednisone use. Long-term use of dexamethasone is not recommended, because it crosses the placenta and has been associated with detrimental impact in intellectual development. Prednisone is metabolized by placental 11-beta-hydroxysteroid dehydrogenase, which is believed to protect the fetus. Since prednisone benefits to prevent early pregnancy loss or to improve pregnancy outcome in NCCAH have not been clearly described, this case may provide us with more information for future guidance and research.

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