ESPE Abstracts

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)

Aim of the study: The study aims to study the clinical and genotypic characteristics of cases of 11- Beta Hydroxylase Deficiency CAH at Alexandria University Children’s Hospital, Alexandria Egypt.

Subjects and Methods: The cases were recruited from Endocrinology Outpatient Clinic at Alexandria University Children’s Hospital (AUCH), Alexandria, Egypt. Thorough history taking and clinical examination were taken with special emphasis on family history, degree of virilization by Prader staging, presence of adrenal crisis, hypertension, and Tanner staging of puberty. Laboratory investigations including 17-hydroxyprogesterone (17-OHP), serum cortisol, ACTH, serum testosterone and serum sodium and potassium were done. Molecular Genetic Testing of gene mutations by Whole exon sequencing was done for all cases.

Results: We studied 13 cases of 11 B- CAH, 9 females and 4 males. They aged from 6 months to 15 years. 30 % had adrenal crisis and 23 % had Hypertension. 5 cases presented with Precious Puberty. One patient had Associated Pituitary Adenoma. 3 had siblings with same condition. They all have mutation in CYP11B1 with different genomic positions.

Conclusions: A precise diagnosis of cases of 11 B- CAH is essential for proper replacement therapy and genetic counseling. Molecular Genetic testing is important for phenotype- genotype correlation of cases of 11 B- CAH.

References: 1. White PC. Congenital adrenal hyperplasia owing to 11beta-hydroxylase deficiency. Adv Exp Med Biol 2011;707:7-8. 2. Alsanea M N, Al-Agha A, Shazly. Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review. Cureus 2022: 14(1): e21537. 3. Menabò, S., Polat, S., Baldazzi, L. et al. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. Eur J Hum Genet 2014; 22, 610–16.