Mistaken gender identity in non-classical congenital adrenal hyperplasia.

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.[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.[2] There are no reports of frequency of non-classical CAH in general population.[2] It is postulated that a general psychiatrist is unlikely to see more than one or two cases in lifetime.[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 [Figures 1-3]. 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. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia.

Figure 1

Hirsutism, masculine body habitus and female external genitalia

Figure 3

Female pattern pubic hairs: Tanner stage III

Figure 4

Ultrasound showing female internal genitalia

Breast development: Tanner stage III

DISCUSSION

“Gender identity” describes psychological recognition of self as well as wish to be regarded by others as fitting into the social categories of male or female. These social categories generate expectations of “gender roles” that is how one is expected to behave in the society. “Sex” on the other hand represents biological sexual characteristics. “Gender dysphoria” refers to persistent sense of one's gender identity being in discord with anatomical sex and may be accompanied by gender discordant behaviour as was present in our case.

Without knowledge of Ms. T's intersexuality, presentation was most consistent with gender identity disorder of diagnostic and statistical manual-IV, text revision (DSM-IV-TR). She had “strong and persistent cross-gender identification,” “persistent discomfort with her natally assigned sex” and “clinically significant distress or socio occupational impairment.” However DSM-IV TR specifically excludes concurrent physical intersex disorders. Intersex subcategories include male pseudohermaphroditism, female pseudohermaphroditism, true hermaphroditism and gonadal dysgenesis. Ms T was diagnosed with non-classical CAH, a mild variant of one of the common causes of female pseudohermaphroditism.

Non-classical CAH is an autosomal recessive genetic disorder due to deficiency of 21-hydroxylase enzyme, being more common in Ashkenazi Jews, Hispanics and Italians.[4] It is also called attenuated, late-onset, acquired and cryptic adrenal hyperplasia. The age of 13 years is taken as an arbitrary dividing line between early and late onset cases to discriminate pre and post pubertal onset.[5] Non classical forms have more commonly been associated with hirsutism, acne, menstrual irregularities, but rarely with gender identity crisis as in our case.

Available research on CAH focuses more on sexual orientation than gender identity. In a sample of 62 Swedish females with CAH, Frisén et al. reported more male-dominant occupations (30%), greater interest in rough sports (74%), non-heterosexual orientation (19%) whereas other psychosexual parameters assessed were comparable to controls.[6] Meyer-Bahlburg et al. studied 82 women with non-classical CAH and reported gender dysphoria in 2 and sex change in1, rest all were comparable to controls in terms of gender identity.[7] Berenbaum et al. did not find any difference in gender identity of the 43 women with CAH studied when compared to controls.[8]

In adults presenting with gender dysphoria, specifics of medical history at times may not be apparent. It may present as unassembled puzzle as our patient. It requires (1) a thorough medical history and physical examination, (2) karyotyping and (3) a thorough psychiatric examination. Only after ruling out intersex conditions should primary psychiatric conditions be diagnosed.

Favourable point in Ms. T's case was by virtue of male external body habitus, no hormonal treatment was required along with gender affirmation surgery. However, post-operatively, Ms. T will continue to face legal issues of change in name and sex on birth certificates, identity cards. These surgeries are legally allowed in U.K. and U.S.A, but in India, no clear legal guidelines are available. Tista Das is currently the only transsexual in India to have a valid Voter Identity and Ration Card.[9] Indian Laws regarding marriage, adultery, sexual offences, adoptions, succession and industrial laws will require modifications when dealing with these individuals. A social, legal and legislative change is the need of hour.