# Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient

## TL;DR

A 73-year-old 46,XX individual was diagnosed with congenital adrenal hyperplasia after a long delay, revealing challenges in diagnosing and understanding sex development disorders.

## Contribution

This case highlights the diagnostic challenges of delayed CAH diagnosis and the misinterpretation of anatomical features in a completely virilized 46,XX individual.

## Key findings

- A 73-year-old 46,XX patient was diagnosed with classic CAH due to compound heterozygosity in CYP21A2.
- The patient's prolonged hyperandrogenism led to prostate-like appearance from paraurethral glands, delaying diagnosis.
- Imaging misinterpretation and communication issues contributed to the delayed diagnosis.

## Abstract

Classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is typically diagnosed in early life. We report a 46,XX completely virilized 46,XX patient who was diagnosed with classic CAH at the age of 73 years. He was under follow-up for prostate hyperplasia and referred after the finding of giant bilateral adrenal myelolipomas. He presented with hormonal values initially interpreted as suggestive of hypogonadotropic hypogonadism, prompting further biochemical and genetic analysis. Next-generation sequencing identified heterozygous variants in X-linked genes, uncovering a 46,XX difference of sex development (DSD). Then, CYP21A2 molecular analysis revealed compound heterozygosity for two pathogenic variants (p.I173N, p.R357W), confirming simple virilizing CAH. The patient’s reticent attitude contributed to the diagnostic delay. However, this unique case reveals the challenges generated by the paraurethral glands hyperplasia - mimicking a prostate due to prolonged untreated hyperandrogenism - as well as the repeated failure to recognize Müllerian remnants on imaging and the critical issues related to diagnostic communication.