Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development

Abstract In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous gen-italia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treat-ment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex character-istics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched forgender,age,andresidentialsetting(rural,suburban,orurban).In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender devel-opment in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatmentpriortothisstudy.Weobservedagenderchangeinallage groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood

Body Image and Sexuality in Indonesian Adults with a Disorder of Sex Development (DSD)

In Indonesia, disorders of sex development (DSDs) are not well recognized and medical care for affected individuals is scarce. Consequently, many patients live with ambiguous genitalia and appearance. We compared reported outcomes on body image, sexual functioning, and sexual orientation of 39 adults with DSDs (aged 18 to 41) and 39 healthy controls matched for gender, age, and residential setting (urban, suburban, rural). Differences in gender and treatment status (treated or untreated) were also explored. On body image, adults with DSDs reported dissat-isfaction with sex-related body parts. Compared to the matched controls, women with DSDs reported greater sexual distress, and men with DSDs reported lower erectile and ejaculation fre-quencies, and more dissatisfaction with sexual life but not with sexual desire and activities. Men with DSDs who had undergone genital surgery reported higher erectile and ejaculation frequen-cies than untreated men. More women than men in the DSDs group reported a nonexclusive heterosexual orientation. DSDs and infertility had a great impact on sexuality. Fear of ostra-cism complicated DSD acceptance. Findings were compared to those of Western studies. Based on these results, education about DSDs and their psychosexual consequences may help reduce the sexual distress and problems in adults with DSDs and improve quality of life

Social stigmatisation in late identified patients with disorders of sex development in Indonesia

Objectives To assess social stigmatisation related to atypical appearance of the body, including, but not limited to the external genitalia, among Indonesian patients with a disorder of sex development (DSD). Until recently, diagnostic evaluation, information about the underlying causes of DSD and treatment options were sparsely available for these patients. Methods Eighty-one parents of children and adolescents with DSD (aged 6–17 years) and 34 adult patients with DSD (aged 18–41 years) completed the Social Stigmatisation Scale towards DSD, an instrument developed to assesses the frequency of stigmatisation and the level of stress associated with these experiences. Open-ended questions investigated detailed information on stigmatisation as well as parents’ and patients’ emotional and behavioural reactions to these experiences. Differences in stigmatisation were explored across sex of rearing, gender change history, treatment status and DSD characteristics that could be easily identified by others (e.g., masculinisation of the body in women). Results Social stigmatisation was reported by patients with atypical appearance of their genitalia, atypical appearance of their body aside from their genitals, among those who displayed cross-gender behaviour and those who changed gender. Among participants reared as women and among children and adolescents who changed gender, social stigmatisation was associated with ostracism, depressive symptoms and social isolation. Conclusions Patients unable to conceal their condition (those with visible physical atypicality and those who changed gender) experienced social stigmatisation. Stigmatisation was stressful and related to isolation and withdrawal from social interaction. Education about DSD, self-empowerment and medical interventions to prevent atypical physical development may remove barriers to acceptance by others for affected individuals

Gender Promotion Differences in Economics Departments in Japan: A Duration Analysis

Context: High-dose estrogen treatment to reduce final height of tall girls increases their risk for infertility in later life. Objective: The aim was to study the effect of estrogen dose on fertility outcome of these women. Design/Setting: We conducted a retrospective cohort study of university hospital patients. Patients: We studied 125 tall women aged 20-42 yr, of whom 52 women had been treated with 100 mu g and 43 with 200 mu g of ethinyl estradiol (EE) in adolescence. Main Outcomes: Time to first pregnancy, treatment for infertility, and live birth rate were measured. Results: The time to first pregnancy was increased in treated women. Of untreated women, 80% conceived within 1 yr vs. 69% of women treated with 100 mu g EE and 59% of women treated with 200 mu g EE. This trend of increased time to pregnancy with increasing estrogen dose was significant (log rank trend test, P = 0.01). Compared with untreated women, fecundability was reduced in women treated with both 100 mu g EE [hazard ratio = 0.42; 95% confidence interval (CI), 0.19-0.95] and 200 mu g EE (hazard ratio = 0.30; 95% CI, 0.13-0.72). We also observed a significant trend in the incidence of treatment for infertility with increased estrogen dose (P = 0.04). Fecundity was affected in women treated with 200 mu g EE who had reduced odds of achieving at least one live birth (odds ratio = 0.13; 95% CI, 0.02-0.81), but not in women treated with 100 mu g EE. Conclusions: We report a dose-response relationship between fertility in later life and estrogen dose used for the treatment of tall stature in adolescent girls; a higher estrogen dose is associated with increased infertility. (J Clin Endocrinol Metab 97: 3107-3114, 2012

Do Surgical Interventions Influence Psychosexual and Cosmetic Outcomes in Women with Disorders of Sex Development?

Clinical practice developed to promote psychosexual well-being in DSD is under scrutiny. Although techniques for genital surgery have much improved lately, long-term studies on psychosexual functioning and cosmetic outcome on which to base treatment and counseling are scarce. We studied 91 women with a DSD. Feminizing surgery was performed in 64% of the women; in 60% of them, resurgery in puberty was needed after a single-stage procedure. Both patients and gynecologists were satisfied with the cosmetic appearance of the genitalia. However, forty percent of these females experienced sexuality-related distress and 66% was at risk for developing a sexual dysfunction, whether they had surgery or not. Recognizing the difficulty of accurate assessment, our data indicate that feminizing surgery does not seem to improve nor hamper psychosexual outcome, especially in patients with severe virilization

The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

Item does not contain fulltextCONTEXT: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous, and there are at least eight genes involved in its pathogenesis, whereas CHARGE syndrome is caused by autosomal dominant mutations in only one gene, the CHD7 gene. Two independent studies showed that CHD7 mutations can also be found in a minority of KS patients. OBJECTIVE: We aimed to investigate whether CHD7 mutations can give rise to isolated KS or whether additional features of CHARGE syndrome always occur. DESIGN: We performed CHD7 analysis in a cohort of 36 clinically well-characterized Dutch patients with KS but without mutations in KAL1 and with known status for the KS genes with incomplete penetrance, FGFR1, PROK2, PROKR2, and FGF8. RESULTS: We identified three heterozygous CHD7 mutations. The CHD7-positive patients were carefully reexamined and were all found to have additional features of CHARGE syndrome. CONCLUSION: The yield of CHD7 analysis in patients with isolated KS seems very low but increases when additional CHARGE features are present. Therefore, we recommend performing CHD7 analysis in KS patients who have at least two additional CHARGE features or semicircular canal anomalies. Identifying a CHD7 mutation has important clinical implications for the surveillance and genetic counseling of patients