Cross-Cultural Disparities in Psychosocial Research with Individuals with Classical Congenital Adrenal Hyperplasia: A Scoping Review.

INTRODUCTION: There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However, cross-cultural disparities exist in treatment practices and psychosocial outcomes that impact the generalizability of evidence-based recommendations. To date, this disparity has not been quantified. The present scoping review uses a dual approach to contrast rates of CAH diagnosis with CAH psychosocial research rates across countries. METHODS: Six electronic database searches were conducted for: (1) CAH incidence/birth/prevalence rates; and (2) psychosocial research with affected individuals and their families. Two authors reviewed each abstract for inclusion criteria. RESULTS: Sixty-eight and 93 full-text articles, respectively, were evaluated for incidence and country. The countries/regions with the highest reported CAH rates are Thailand, Ghana, and India. Those with the greatest portion of psychosocial publications are the USA, Germany, and the UK. CONCLUSION: A discrepancy exists between those countries with the highest CAH rates and those publishing psychosocial research. Specifically, increased rates of CAH are seen in non-Western countries/regions, whereas most psychosocial research arises out of Western Europe and the USA. Due to cultural differences between these regions, increased global collaboration is needed to both inform psychosocial research and translate findings in ways that are representative worldwide.

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center.

BACKGROUND: Our Multidisciplinary Team (MDT) is a large specialized team based in Semarang, Indonesia that cares for a wide variety of pediatric and adult individuals with Differences of Sex Development (DSD) from across Indonesia. Here we describe our work over the last 17 years. METHODS: We analyzed phenotypic, hormonal and genetic findings from clinical records for all patients referred to our MDT during the period 2004 to 2020. RESULTS: Among 1184 DSD patients, 10% had sex chromosome DSD, 67% had 46,XY DSD and 23% had 46,XX DSD. The most common sex chromosome anomaly was Turner syndrome (45,X) (55 cases). For patients with 46,XY DSD under-masculinization was the most common diagnosis (311 cases) and for 46,XX DSD a defect of Müllerian development was most common (131 cases) followed by Congenital Adrenal Hyperplasia (CAH) (116 cases). Sanger sequencing, MLPA and targeted gene sequencing of 257 patients with 46,XY DSD found likely causative variants in 21% (55 cases), with 13 diagnostic genes implicated. The most affected gene coded for the Androgen Receptor. Molecular analysis identified a diagnosis for 69 of 116 patients with CAH, with 62 carrying variants in CYP21A2 including four novel variants, and seven patients carrying variants in CYP11B1. In many cases these genetic diagnoses influenced the clinical management of patients and families. CONCLUSIONS: Our work has highlighted the occurrence of different DSDs in Indonesia. By applying sequencing technologies as part of our clinical care, we have delivered a number of genetic diagnoses and identified novel pathogenic variants in some genes, which may be clinically specific to Indonesia. Genetics can inform many aspects of DSD clinical management, and whilst many of our patients remain undiagnosed, we hope that future testing may provide answers for even more.

Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study.

Background: Illness uncertainty in parents of children with congenital adrenal hyperplasia (CAH) refers to parents' inability to create meaning in events related to their children having CAH. This may influence their role in caring for children with CAH. Objective: The study aimed to determine factors associated with illness uncertainty experienced by parents of children with CAH in a developing country. Methods: A cross-sectional study was conducted on 80 parents (43 mothers and 37 fathers) of children with CAH, selected using consecutive sampling methods. The Parent's Perception of Uncertainty Scale (PPUS) was used to measure the illness uncertainty levels. Data were collected from March 2020 to October 2020. Independent t-test and chi-square test were used to determine factors (parent's gender, age, educational level, monthly household income, number of children with CAH, history of child death due to CAH, child's age when first diagnosed with CAH, duration of therapy, gender change, type of CAH (salt wasting/SW or simple virilizing/SV), current gender, and genitoplasty) influencing illness uncertainty in parents. Results: The mean scores of PPUS were 42.3 ± 12.91, and the majority of parents had a low PPUS score (49; 61%). Parents of children with SW-CAH showed higher uncertainty (44.2 ± 12.77) than those with SV-CAH (32.6 ± 8.86; p = 0.003). Parents who lost their children due to CAH were more likely to report a moderate illness uncertainty than parents who never experienced child mortality due to CAH (χ2(1, 80) = 4.893; p = 0.027). Conclusion: The factors significantly affecting uncertainty in parents of children with CAH determined in this study might help healthcare professionals, including nurses, to play a pivotal role in giving pertinent information regarding their children's health, disease, and therapy to help manage parental uncertainty.

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

[This corrects the article DOI: 10.3389/fendo.2022.1015973.].

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

Background: Congenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and accumulation of adrenal androgens and steroid precursors with mineralocorticoid activity. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females (differences of sex development (DSD)), and hypertension. Medical treatment recommendations are well defined, consisting of glucocorticoid treatment to substitute glucocorticoid deficiency and consequently normalize adrenal androgen and precursors levels. Current guidelines also emphasize the need for specialized multidisciplinary DSD teams and psychosocial support. In many developing countries, care for DSD patients, especially when caused by an adrenal disease, is challenging due to the lack of infrastructure, knowledge, and medication. Objective: The study aims to report the conflicting decision-making process of medical treatment and sex assignment in late-identified CAH patients in developing countries. Methods: We describe the clinical and biochemical findings and the psychological assessment of five affected but untreated family members with CAH due to CYP11B1 deficiency. Results: All patients had a 46,XX karyotype, ambiguous genitalia, low cortisol levels, and hypertension. Two identified as males, two as females, and one had undecided gender. The patients were counselled that refusing treatment will lead to infertility and the potential risk of developing Addisonian crisis and severe hypertension. However, all 46,XX CAH males refused treatment with glucocorticoids due to the expected lowering of adrenal androgens as their main source of testosterone. None of the patients developed Addisonian crisis, probably due to some residual cortisol activity and glucocorticoid activity of elevated adrenal steroid precursors. Conclusion: Medical treatment and sex assignment in late-identified 46,XX CAH patients in Indonesia may often depend on local and cultural factors. The management of DSD conditions may have to be individualized and integrated into the psychological and social context of the affected family.

Attitudes of Indonesian health science undergraduates toward sexuality in individuals with intellectual disabilities.

BACKGROUND: Sexuality is a fundamental part of the lives of human beings. However, a significant inequality exists regarding the right of an individual with intellectual disabilities. AIMS: This study aimed to explore the attitudes of undergraduate health science students toward sexuality in individuals with intellectual disability (ID) in Indonesia. METHODS: A cross-sectional study was performed using the Indonesian version of Attitudes toward Sexuality Questionnaires in Intellectual Disability (ASQ-ID). This study involved 617 students in medical, psychology, and public health undergraduate programs. RESULTS: Among all participants (n = 617, male = 137, female = 480), the attitude towards self-control was found a significant difference among all three health science undergraduates (p = .01). The psychology students had the most favorable attitudes toward self-control compared to other students. The difference was found between medical and public health students and between public health and psychology students with p = .009 and p = .011, respectively. Religion was significantly affected for the non-reproductive sexual behavior subscale (p = .038). The religion was found to have significant effect on the attitude towards nonreproductive sexual behavior subscale (p = .038). CONCLUSIONS: Results show that Indonesian undergraduate students majoring in the health sciences have varying attitudes toward sexuality in individuals with ID. Medical and psychology students have more favorable attitudes toward self-control, whereas public health students have less favorable attitudes. Their religion influencing the attitudes toward nonreproductive sexual behavior.

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care.

Background: Patients with a disorder of sex development (DSD) are born with atypical genitals or may develop atypical genitals and atypical body appearance, if left untreated. Health related quality of life (HRQoL) was assessed in Indonesian patients to whom diagnostic procedures and medical intervention had been delayed. Method: Comparison of 118 patients born with DSD, aged 6-41 years (60 children, 24 adolescents, and 34 adults) and 118 healthy control subjects matched for gender, age, and residential setting. HRQoL was measured using a translation of the TACQOL/TAAQOL. Results: According to parental and children's report, children with DSD reported more problems in social functioning and had less positive moods. Girls, in particular, reported problems in cognitive functioning. Adult patients reported more depressive moods, especially women, who reported more anger. No differences were found between in the adolescent groups. Conclusion: The data suggest that Indonesian children with DSD experienced more problems in social contact than non-affected Indonesian children, whereas Indonesian adults with DSD suffered from negative emotions more often than non-affected Indonesians. These findings on HRQoL are in line with findings on emotional functioning.

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.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development.

OBJECTIVE: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown. This study investigated the modalities of psychosocial care provided in centres of DSD care. METHODS: An international survey conducted among 93 providers of psychosocial care, identified through clinical networks, registries and professional forums. RESULTS: Forty-six respondents from 22 different countries filled out the survey (49%). Most respondents (78%) were based in hospital-based expert teams. Referrals came from paediatric endocrinologists (76%), gynaecologists (39%) and paediatric urologists (37%). Psychological counselling was most frequently given to parents (74%), followed by children (39%), adolescents (37%) and adults (11%) and was most frequently focused on coping and acceptance of DSD (54%), education (52%), the atypical body (39%) and genital (41%), decisions on genital surgery (33%), complications with sexual intercourse (29%), disclosure (28%) and acceptance of infertility (11%). Respondents most frequently observed DSD related confusion about gender (54%), acceptance of cross gender behaviour (50%), anxiety (43%) and sadness and depression (38%). CONCLUSIONS: Most psychosocial care is provided to parents. It is assumed that parental support is important as acceptance is conditional to become affectionate caretakers. Although it may be more difficult for youngsters to communicate about their condition and treatment, providing opportunity to bring up issues that are important for them, is imperative. Clinicians and parents should be aware that parental and patients' interests may not correspond completely. Psychosocial management should also include transition and adult care.

Sociocultural aspects of disorders of sex development.

Disorders of sex development (DSD) is a congenital condition in which the development of chromosomes, gonads, hormones, and reproductive structures are atypical. DSD brings with it a psychological impact on the affected individual and their families. The consensus statement on management of DSD strongly advised an integrated and multidisciplinary approach in providing care to the affected individuals. Studies have been conducted focusing on medical intervention, and more recently, there is increasing attention paid to psychological aspects of DSD. However, studies reporting cultural aspects of DSD are lacking. This review provides an overview on how culture impacts the affected individuals in coping with DSD and making decisions with regard to gender assignment or reassignment, help-seeking behavior for medical treatments, attitudes toward medical treatment, religious beliefs, and values concerning marriage and fertility. The involvement of social scientists is needed to study sociocultural aspects of DSD from more diverse cultures, to help affected individuals and their families in gaining better social acceptance. Birth Defects Research (Part C) 108:380-383, 2016. © 2016 Wiley Periodicals, Inc.

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

In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. 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 for gender, age, and residential setting (rural, suburban, or urban). 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 development 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 treatment prior to this study. We observed a gender change in all age 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.

Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development.

OBJECTIVE: The aim of this study is to investigate emotional and behavioral problems among Indonesian patients with disorders of sex development (DSD) who recently came under clinical management. As diagnostic procedures and treatment had been delayed, patients progressively developed ambiguous bodies, difficult to conceal from outsiders. METHOD: We compared 118 Indonesian patients with DSD aged 6-41 years (60 children, 24 adolescents, 34 adults) and 118 healthy control subjects matched for age, gender, and residential settings. We used the Child Behavioral Checklist (CBCL), Youth Self-Report (YSR), and Adult Self-Report (ASR) to examine differences between patient and control groups as well as differences within patients groups. RESULTS: On the CBCL, parents of young children with DSD reported significantly more emotional and behavioral problems than parents of matched control. Parents of daughters with CAH reported that their daughters withdrew themselves from social interactions. On the ASR, adults with DSD reported significantly more internalizing problems than controls, particularly anxiety and depression. No other differences in emotional functioning were found across different diagnostic groups. CONCLUSIONS: Indonesian patients with DSD who were untreated for most of their lives suffered more emotional and behavioral problems than matched controls. Differences and similarities between our findings and observations in patients from Western countries will be discussed.

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 dissatisfaction 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 frequencies, 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 frequencies 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 ostracism 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.

Virilization due to androgen hypersecretion in a patient with ovarian leydig cell tumor: diagnostic and psychosocial implications.

Virilization due to hyperandrogenism in women causes male signs and symptoms such as swelling of the clitoris, deepening of the voice, facial hair and increase in body hair. Virilization is caused by less than 0.5% of all ovarian tumors. Here we report a case of virilizing Leydig cell tumor of the left ovary in a 36 year old woman. Misinterpretation of symptoms, conflicting medical information and advice from previous doctors had confused the patient. We performed a diagnostic evaluation including clinical, hormonal parameters, imaging, anatomical pathology examinations, and psychological assessment. Blood analysis showed a high testosterone level. The presence of an ovarian tumor was confirmed by laparoscopy. Since the patient refused ovariectomy, a biopsy of the left ovary was performed. Pathology showed a Leydig cell tumor without histological signs of malignancy. In spite of extensive explanation and psychological counseling, cultural barriers prevented appropriate treatment. An ovarian Leydig cell tumor should always be considered for a woman in the reproductive age with symptoms of virilization. The diagnosis is suspected on the basis of an ovarian mass on examination and further investigation and should be proven by biopsy.

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

BACKGROUND: Thalassaemia has become a major public health issue in Indonesia. It has been estimated that up to 10% of the population carries a gene associated with beta-thalassaemia. Currently, there is no formal recommendation for thalassaemia screening. This study aimed to explore awareness of thalassaemia, and to explore attitudes regarding carrier testing among Javanese mothers. METHODS: A quantitative questionnaire, designed using constructs of the Theory of Planned Behaviour, was applied cross-sectionally. RESULTS: Out of 191 mothers who were invited, 180 agreed to participate (RR = 94%), of whom 74 had a child affected with thalassaemia. Both attitudes towards receiving information about thalassaemia, and attitudes towards carrier testing were very positive. Awareness of thalassaemia was poor. Mothers, both those with and without an affected child, had barely heard of thalassaemia, nor of carrier testing. However, all mothers, including those with an affected child expressed high levels of interest in carrier testing. Respondents did not perceive that they had any control over carrier testing, and feared stigmatization and being discriminated against if their carrier status was identified. Attitudes towards carrier testing explained 23% of future reproductive intentions, in addition to perceived stigmatization, education level and 'mother's age' (R (2)=0.44; p=0.001). CONCLUSION: Responding mothers expressed high levels of interest in receiving information on both thalassaemia and carrier testing. The less educated and the more deprived they were, the keener they were to receive this information. Overall, awareness of thalassaemia was low. Even mothers with affected children seemed unaware of the inheritance pattern and the recurrent risk of having an affected child in a subsequent pregnancy, showing the need for genetic counselling in Indonesia. It is therefore recommended not only to raise awareness about thalassaemia, but to improve the education of healthcare professionals as well.