Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21-hydroxylase deficiency. The symptoms of disease very depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Non-classical CAH is generally late onset. However, treatment in the form of replacement hormone therapy corrects the hormone deficiencies. Life-long medication is required to prevent the return of symptoms.

Patients and methods: This is a retrospective descriptive study, which included patients with congenital adrenal hyperplasia, followed at the endocrinology department of the CHU Farhat Hached Hospital of Sousse between 1996 and 2018. Patients were evaluated on the clinical and biological plan.

Results: 26 cases of congenital adrenal hyperplasia were included: 23.1% were males and 73.7% were females. This study found that median age of patients was 30 years ranging from 11 to 49 years whilst median age at diagnosis of CAH was 14 years, ranging from 0 to 28 years. Positive consanguinity was found in 10 cases (36.5%). Positive history of similar cases in the family was found in 10 cases (36.5%). There were 22 (84.6%) patients with congenital adrenal hyperplasia due to 21-a-hydroxylase deficiency and 4 (15.4%) due to 11β-hydroxylase deficiency. Salt losing type of CAH was found in 5 cases (19.2%) and simple virilizing type was found in 4 cases (15.4%). A late revelation type was found in 10 cases (65.4%). Almost all patients were having elevated pre-treated 17-hydroxy progesterone (17-OHP)serum.The median level of pre-treated 17-OHP was 50 ng/ml.The mean doses of hydrocortisone was 28.08 mg/day.

Conclusion: Based on the clinical and laboratory findings, the majority of CAH patients were likely to have 21-OH deficiency, the most common form of classic CAH. Thus, genetic studies should be done. Considering that the age at diagnosis is delayed in the study population, more effort is also required to educate the public regarding the disease presentation. The introduction of a neonatal screening programmeis essential so that CAH can be diagnosed early.