Retrospective evaluation of cases with congenital adrenal hyperplasia, diagnosed in the KTU Farabi Hospital Endocrinology and Metabolism Diseases Clinic between 2000-2023

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from enzyme deficiencies in adrenal steroidogenesis. The vast majority of cases (more than 95%) are due to 21-hydroxylase deficiency. Impaired cortisol and aldosterone synthesis leads to increased ACTH secretion and androgen excess, indicating various clinical and biochemical phenotypes. Objective: The aim of this study is to evaluate the diagnosis and follow-up processes, create awareness in clinical practices and contribute to the literatüre by evaluating the demographic characteristics, practice clinics, diagnosis times, biochemical findings, and treatment processes of individuals with CAH, which is commonly seen in our country. Materials and Methods: This retrospective study was conducted by reviewing the medical records of individuals aged 18 years and older diagnosed with CAH who were followed between 2000 and 2023 at the Endocrinology and Metabolism Diseases Clinic of Karadeniz Technical University Farabi Hospital. A total of 52 patients diagnosed with 21-OH or 11-beta-hydroxylase deficiency were included. Patients with 21-OH deficiency were divided into subgroups according to their clinical forms (salt-loss, simple virilizing, nonclassic). Demographic data, age at diagnosis, application clinic, phenotypic characteristics, biochemical parameters, treatment agents and doses, and follow-up information were analyzed. The findings were statistically evaluated using the SPSS software. Findings: A total of 52 adult patients with CAH were included in the study. Among these, 38.5% were diagnosed with the simple virilizing type, 25% with the salt-wasting type, 21.2% with the non-classical type, and 15.4% with 11-beta-hydroxylase enzyme deficiency. Of the patients, 61.5% had a female phenotype, and 38.5% had a male phenotype. The male phenotype was more common in the 11β-OH enzyme deficiency group (62.5%). In nonclassic patients, the age of diagnosis was significantly higher (p<0.001). Male patients with 21-OH deficiency had significantly greater height compared to those with 11β-OH deficiency (p=0.015). Among female patients, those with non-classical CAH were significantly taller than those with classical forms (p=0.005). Overall, 44.2% of the patients were overweight and 21.2% were obese. No statistically significant difference was found in BMI between the groups. The most common presenting symptoms were ambiguous genitalia (30.8%), polycystic ovary syndrome (PCOS) (13.5%), hirsutism, electrolyte imbalances, and adrenal crisis. Comorbidities were present in 40.4% of the patients, with hypertension (HT) being the most common (21.2%), followed by hypothyroidism (11.5%). HT was most frequently observed in patients with 11β-OH deficiency (87.5%). Sodium levels were significantly lower in patients with the salt-wasting type. DHEAS levels were significantly higher in the non-classical and simple virilizing groups compared to the salt-wasting group (p<0.001 and p=0.004, respectively). Testicular adrenal rest tumors (TART) were detected in 15% of 20 male patients who underwent testicular ultrasound. Among the patients, 48.1% were using prednisolone, 42.3% hydrocortisone, 11.5% dexamethasone, and 23.1% fludrocortisone. The mean daily steroid dose in hydrocortisone equivalent was 25.5 ± 9.7 mg. Most patients (78.7%) were receiving the recommended dose, while 17% were on high doses and 4.3% on low doses. Surgical procedures were performed in 47.1% of the patients. The most common operations included vaginoplasty (17.6%), salpingo-oophorectomy, and clitoroplasty. Regarding treatment-related complications, 11.5% of patients had osteoporosis, and 3.8% had Cushingoid appearance, diabetes mellitus (DM), or adrenal insufficiency. Remission was achieved in 51.9% of patients. HDL and LDL cholesterol levels were significantly higher in those in remission (p=0.016 and p=0.002, respectively). Chromosome analysis revealed 46XX in 75%, 46XY in 23.1%, and 46XXY in 1.9% of patients. Among male phenotype patients, 35% had a 46XX karyotype. Conclusion: In conclusion, CAH is a significant endocrine disorder that can present with life-threatening conditions such as adrenal crisis. Early diagnosis, appropriate treatment, and regular follow-up are critically important for preventing acute complications and managing long-term outcomes. This study aimed to contribute to the awareness in this field by evaluating the clinical and biochemical characteristics of adult patients with CAH. Keywords: Congenital Adrenal Hyperplasia, 21-hydroxylase deficiency, 11-beta-hydroxylase deficiency, Glucocorticoid therapy, Adult patient