P-06 WHEN IS GENDER SELECTION IN CONGENITAL ADRENAL HYPERPLASIA?
Authors: Abbasgholizadeh Anna , Bektaş Mustafa , Üstay Özlem 
Published: January 2025

Introduction

Congenital adrenal hyperplasia (CAH) is one of the most common (classical type; nonclassical type) genetic diseases and is inherited in an autosomal recessive manner.

This disease can lead to adrenal insufficiency, fluid-electrolyte disorder, and ambiguous genitalia as a result of axis dysfunction in cortisol biosynthesis. The optimal time for gender identity formation is between the ages of 18 and 36 months. The gender assignment of patients with CAH should be done as soon as possible before people around them know about it.

Clinical Case

A 23-year-old patient with known CAH due to 21-hydroxylase deficiency was referred to our clinic by a psychiatrist 1 year ago with the diagnosis of gender dysphoria. In his history, the patient was admitted first to the hospital with complaints of nausea and vomiting only one month after birth by his family. During examination at that time, BP was 70/40mmHg, and genital examination revealed ambiguous genitalia. In laboratory tests, Na:128mEq/l, K:5.1 mEq/l, DHEA-SO4: 4mcg/dl, basal cortisol: 1.18 mcg/dl and 17-OH progesterone: 6.8 ng/ml were found, and Karyotype analysis was reported as 46 XX. According to these results, the patient was diagnosed with CAH. Genetic analysis revealed CYP21A2 IVS2-13 C&gt;G homozygous mutation. The patient who has classical type CAH was accepted as a phenotypically and genetically female child by her family and had undergone 2 correction operations since the age of 1 due to ambiguous genitalia.

Between 2003 and 2013, he continued his follow-up in the pediatric endocrinology department and used Hydrocortisone + Fludrocortisone treatment in varying doses. He expressed that he did not go for regular check-ups and did not use his medications until 2018. Due to being untreated for a long time, his testosterone levels were high as male normal ranges, and his phenotype was male. The Ferriman-Gallwey score was determined as 22, and reconstruction scars and narrow vaginal opening were observed in the genital examination. In the laboratory test without any treatment were 17-OH-progesterone &gt; 20ng/ml, basal cortisol: 7.8 mcg/dl, ACTH: 570 pg/ml, total testosterone: 524 ng/L, estradiol: 42 ng/L, DHEAS:252 mcg/dl, FSH:4.5 IU/L, LH: 0.76 IU/L, Na:136 mEq/L, K:4.3 mEq/L.

The patient, who had simple virilizing CAH and gender dysphoria together, was first planned to start steroid replacement therapy in terms of CAH treatment. According to his clinical course, a decision was made to re-evaluate him in terms of identity change and testosterone replacement therapy.

Conclusion

The majority of CAH patients were raised as chromosomally female-identifying and living as female despite masculinized gender behaviors. Only 5.2% of these patients experienced gender dissatisfaction. Recent studies have shown that rather than intrauterine hormone exposure, regular treatment during the growth period and gender orientation during follow-up are more accurate and important regarding psychosocial satisfaction.Figure 1Possesses a masculine phenotype without using any testosterone