Endocrine Abstracts

Overview: Congenital adrenal hyperplasia is a group of autosomal recessive disorders. In the presented case we will evaluate milder form of the disease, also referred as, non-Classical’’. Prevalence of CAH is 1-9/100000. In 90-95% of cases, CAH is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3

Presented case: 16-year-old girl came to our clinic with amenorrhea, she had her last menstrual cycle 1 year ago. No signs of hirsutism and/or acne. She had gained 10 kg since February. Her BMI was 26.4 kg/m². After evaluating, she had elevated insulin resistance index, vitamin D deficiency and elevated 17(OH) progesterone - 4.135 ng/ml. DHEAs, LH, FSH, Free Testosterone, Estradiol, Prolactin in normal range Metformin 1000 mg and Vitamin D3 4000 IU and 17(OH)progesterone measurement after ACTH stimulation for the verification of non-Classical congenital adrenal hyperplasia had been prescribed. She came again, in December, with her identical twin sister, both with amenorrhea. Sister N2 had normal weight. DHEAs, LH, FSH, Free Testosterone, Estradiol, Prolactin in normal range as well as in sister N1. 17(OH)progesterone was measured again in twin sisters. Sister N1, had 17(OH)Progesterone – 2.83 ng/ml, Sister N.2 had 17(OH)Progesterone - 2.78 ng/ml. In February 2023 ACTH stimulation test with Synacthen was performed: Sister N1: Cortisol basal – 711 nmol/l 17(OH)Progesterone T0 – 8.2 nmol/l Cortisol in 30 minutes – 978 nmol/l 17(OH)Progesterone T60 – 11.1 nmol/l Cortisol in 1 hour – 1131.38 nmol/l Sister N2: Cortisol basal – 583 nmol/l 17(OH)Progesterone T0 – 8.7 nmol/l Cortisol in 30 minutes – 878 nmol/l 17(OH)Progesterone T60 – 9.2 nmol/l Cortisol in 1 hour – 1017.70 nmol/l Prescription and recommendation: In sister N1 case, her test result is equivocal, CAH is not excluded so urine steroid profile and genotyping was recommended. In sister N2 case, CAH was excluded. Oral contraceptives were prescribed for menstrual cycle management in both sisters.

Conclusion: It is important to evaluate NCCAH in all girls/women with menstrual abnormalities, hirsutism and acne for right diagnose and treatment of infertility.