Retrospective investigation of demographic, anthropometric and laboratory findings of cases diagnosed with congenital adrenal hyperplasia

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disease that arises due to a deficiency in any of the enzymes required for glucocorticoid synthesis from cholesterol in the adrenal gland. The most frequently seen enzyme deficiency is 21OH deficiency, observed in approximately 95% of patients, followed by 11βOH deficiency in approximately 5% of patients, with other enzyme deficiencies seen more rarely. Objective: To examine the complaints, age at diagnosis, demographic and laboratory findings of patients diagnosed with congenital adrenal hyperplasia. Material & Method: In this study, 61 patients diagnosed with congenital adrenal hyperplasia who presented to the Pediatric Endocrinology Department of Ondokuz Mayıs University Faculty of Medicine Hospital between January 1, 2013, and June 30, 2022, were retrospectively examined. Anthropometric measurements, clinical findings, laboratory data, and genetic analysis results were collected during the application and follow-up periods of these patients. Statistical analyses were conducted using SPSS for Mac version 26 software. Results: The 61 patients included in our study were divided into male, female, and ambiguous genitalia status based on a male-dominant and female-dominant situation. The majority of patients were male (n=30), while the minority (n=4) were male- dominant. Chromosome analyses were reached in 44 patients, of which 24 had 46, XY chromosomes, and 20 had 46, XX chromosomes. 9 of the patients had high 17- OH Progesterone levels in heel prick blood screening and their diagnoses were determined during follow-up. Six patients were incidentally diagnosed during routine check-ups without complaints. Of the 61 patients in our study group, the most common 21-OH Enzyme Deficiency was detected in a total of 50 patients (81.9%). In this group, 29 (58%) patients had classical salt wasting type, 5 (10%) patients had simple virilizing type and 16 (32%) had non-classical CAH. It was observed that 50.8% of the patients had a history of consanguinity between parents. The average age at diagnosis of all patients was 2,913,95 (min=0, max=14.49) years. When comparing the age at diagnosis according to the diagnosis, the average age of patients with Non-Classic CAH was found to be higher. Blood results were reached at the first presentation of 53 patients, and hyponatremia (Na<135 mEq/L) was detected in 9 patients; the diagnosis of 7 of these patients was the classic salt-wasting type. Hyperkalemia (K>5.5 mEq/L) was detected in 14 patients; the diagnosis of 13 of these patients was the classic salt-wasting type. There were 10 patients whose bone ages were above 14 in girls and 16 in boys at their last checks, and four of the patients had reached their target height. Conclusion: In our patients, 21-OH deficiency was the most common with 81.9%. Of these patients, 58% had the classical salt-losing type of enzyme deficiency. In all our patients, the parental consanguinity rate was high compared to the general population. Except for only one patient, our patients with suspicious genitalia were assigned chromosomally appropriate sex. Although the number of patients reaching the final height was low, four patients reached the target height. Keywords: Congenital adrenal hyperplasia, 21 hydroxylase deficiency, 11βOH deficiency