ABSTRACT
BACKGROUND: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. MATERIALS AND METHODS: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months. A semi-structured interview proforma was used to elicit history and psychosocial background of the patients. The clinical and biochemical details were noted. For psychological analysis, patients were screened for gender dysphoria using Parent Report Gender Identity Questionnaire for children <12 years and Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults. RESULTS: We analyzed 22 46 XX CAH patients among which, 3 were reared as males and 19 as females. Among the 19 patients reared as females, 17 patients showed no gender dysphoria. Two patients revealed gender dysphoria as indicated by their marginally low scores on the gender dysphoria assessment. However, in view of current literature and the age groups of the patients, behavior of the 6-year-old patient can be best understood as being tomboyish. Gender dysphoria in the 22-year-old can be explained by the dominance of psychosocial factors and not hormones alone. Among the three patients reared as males, two prepubertal were satisfied with their male gender identity. The third patient, aged 32 years, had gender dysphoria when reared as a male that resolved when gender was reassigned as female and feminizing surgery was done. CONCLUSION: Gender assignment in 46 XX CAH is guided by factors such as degree of virilization of genitalia, gender orientation, patient involvement, sociocultural, and parental influences.
Subject(s)
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency , Cholestenone 5 alpha-Reductase/genetics , Continuity of Patient Care , Disorder of Sex Development, 46,XY , Gender Identity , Hypospadias , Oligospermia , Steroid Metabolism, Inborn Errors , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , Adult , Child , Disorder of Sex Development, 46,XY/genetics , Disorder of Sex Development, 46,XY/physiopathology , Disorder of Sex Development, 46,XY/psychology , Disorder of Sex Development, 46,XY/therapy , Homozygote , Humans , Hypospadias/genetics , Hypospadias/physiopathology , Hypospadias/psychology , Hypospadias/therapy , Male , Mutation , Oligospermia/diagnosis , Oligospermia/etiology , Sexual Development/genetics , Steroid Metabolism, Inborn Errors/genetics , Steroid Metabolism, Inborn Errors/physiopathology , Steroid Metabolism, Inborn Errors/psychology , Steroid Metabolism, Inborn Errors/therapyABSTRACT
Polycystic ovary syndrome (PCOS) is the most common cause for androgen excess in women. It is associated with wide variety of metabolic disorders. The present study assessed morning plasma cortisol in women with PCOS. One hundred and ninety seven cases and 55 controls were enrolled for this study. The mean age of patients and controls were 23 ± 5.6 years and 25 ± 4.3 years. One hundred twelve (56%) women with PCOS had BMI >25. Serum cortisol levels were significantly higher in lean PCOS women compared to controls (13.4 ± 5.1 versus 11.3 ± 4.5, p < 0.01) and over-weight PCOS women group (13.4 ± 5.1 versus 9.3 ± 3.2, p < 0.01). There was a trend for less acne and hirsutism with increase in BMI. Morning plasma cortisol was lower among obese women with PCOS. Morning plasma cortisol correlated negatively with BMI in PCOS women with normal glucose tolerance.
