Mistaken Gender Identity in Non-Classical Congenital Adrenal Hyperplasia

By Kukreti, Prerna; Kandpal, Manish et al. | Indian Journal of Psychiatry, April-June 2014 | Go to article overview

Mistaken Gender Identity in Non-Classical Congenital Adrenal Hyperplasia


Kukreti, Prerna, Kandpal, Manish, Jiloha, R., Indian Journal of Psychiatry


Byline: Prerna. Kukreti, Manish. Kandpal, R. Jiloha

Gender identity is the sense of belonging that one feels for a particular sex psychologically and socially, independent of one's biological sex. There is much less systematic data on gender identity in females with congenital adrenal hyperplasia (CAH). We report a case of non-classical CAH presenting as a case of gender identity disorder.

Introduction

Congenital adrenal hyperplasia (CAH) is an inherited disorder in which adrenal glands produce excessive amount of androgens. Classical form causes prenatal genital masculinisation and gender dysphoria in nearly 5.2% and 12% respectively. [sup][1] However non-classical CAH are chromosomal females (46XX) born with normal genitalia becoming symptomatic only during adolescence causing hirsutism, acne, menstrual irregularity and rarely gender dysphoria. The frequency of the classical disease has been estimated in Europe and the United States, ranging from 1/5,000 to 1/115,000. [sup][2] There are no reports of frequency of non-classical CAH in general population. [sup][2] It is postulated that a general psychiatrist is unlikely to see more than one or two cases in lifetime. [sup][3] We report non classical CAH as a case of mistaken gender identity.

Case Report

A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously.

Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female [Figure 1], [Figure 2] and [Figure 3]. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals [Figure 4]. Magnetic resonance imaging brain and chest X-ray were normal. …

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