SPECTRUM OF CONGENITAL ADRENAL HYPERPLASIA; PATIENTS PRESENTING TO ADULT ENDOCRINE CLINIC

Abstract

OBJECTIVE

To determine the different modes of presentation of CAH and response to various treatment strategies in an adult population.

METHODOLOGY

A descriptive cross-sectional study was performed at the Endocrine and Diabetes Unit, Jinnah Postgraduate Medical Centre, Karachi, Pakistan from 2007 till date. It encompassed 48 adult patients aged 18 to 40 years, either gender, diagnosed with congenital adrenal hyperplasia with regards to their varied presentation modes early (pre-adolescence), i.e., patients coming from pediatric setups and late (post-adolescence), usually coming for the first time to adult endocrine clinic and hormonal response patterns to treatment were evaluated. The primary medical treatment was steroid therapy and surgical interventions (clitoroplasty and orchidectomy). Data were analyzed by SPSS version 26.

RESULTS

The mean ± standard deviation of the age was 18.48 ± 3.47 years. Of 48 patients, 91.7% were females and 8.3% were male. 26 (54.2%) patients presented early, and 22 (45.8%) presented late. Clitoroplasty underwent 62.5%, while 37.5% of late presentation patients had the procedure (OR 1.508, 95% CI: 0.31–7.17, p=0.452). Orchidectomy was performed on 33.3% early and 66.7% late presentation patients, showing insignificant association (OR 0.400, 95% CI: 0.03–4.73, p = 0.436).

CONCLUSION

This research elucidates that adult patients with congenital adrenal hyperplasia (CAH) exhibit a diverse array of clinical manifestations, contingent upon the timing of diagnosis. Early presenters—typically referred from pediatric settings—predominantly displayed ambiguous genitalia, whereas late presenters more frequently manifested primary amenorrhea, menstrual irregularities, or genital ambiguity. Although steroid therapy and surgical procedures such as clitoroplasty and orchidectomy were routinely utilized, no statistically significant correlation was identified between the timing of presentation and treatment modalities. These results underscore the necessity for prompt identification, personalized treatment strategies, and comprehensive psychosocial support to enhance long-term outcomes, particularly in resource-constrained settings.