Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

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Quality of Life in Children with Disorders of Sex Development

Hormone Research in Paediatrics ◽

10.1159/000478780 ◽

2017 ◽

Vol 88 (5) ◽

pp. 324-330 ◽

Cited By ~ 3

Author(s):

Nalini M Selveindran ◽

Syed Zulkifli Syed Zakaria ◽

Muhammad Yazid Jalaludin ◽

Rahmah Rasat

Keyword(s):

Quality Of Life ◽

Family Income ◽

Disorders Of Sex Development ◽

School Functioning ◽

Control Group ◽

Evidence Based Treatment ◽

Sex Development ◽

Longitudinal Outcome ◽

And Gender

Background/Aims: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. Methods: The participants (aged 6–18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients’ siblings matched for age and gender. The Pediatric Quality of Life InventoryTM Version 4.0 (PedsQL) Generic Core Scales were used as the study tool. Results: In comparison with the reference data, the patient group had significantly lower overall PedsQL (p < 0.01) and school functioning (p < 0.01) scores. Also, the total PedsQL score was significantly lower in patients with DSD who were of female social sex as compared to the controls who were females. Family income, surgical procedures, degree of virilization, and mode of puberty did not influence the PedsQL scores. Conclusion: This study revealed a poorer quality of life for patients with DSD as compared to the age-matched control group. This highlights the need for a skilled multidisciplinary team to manage this group of patients.

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

Frontiers in Pediatrics ◽

10.3389/fped.2018.00434 ◽

2019 ◽

Vol 6 ◽

Author(s):

Annastasia Ediati ◽

Gijsbert H. W. Verrips ◽

Achmad Zulfa Juniarto ◽

Sultana M. H. Faradz ◽

Stenvert L. S. Drop ◽

...

Keyword(s):

Quality Of Life ◽

Disorders Of Sex Development ◽

Patient Centered Care ◽

Patient Centered ◽

Sex Development ◽

Centered Care

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Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre

Clinical Endocrinology ◽

10.1111/cen.12572 ◽

2014 ◽

Vol 82 (2) ◽

pp. 274-279 ◽

Cited By ~ 16

Author(s):

Rita Cassia Amaral ◽

Marlene Inacio ◽

Vinicius N. Brito ◽

Tania A. S. S. Bachega ◽

Ari A. Oliveira ◽

...

Keyword(s):

Quality Of Life ◽

Disorders Of Sex Development ◽

Large Cohort ◽

Tertiary Centre ◽

Sex Development

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Quality of life in 70 women with disorders of sex development

Acta Endocrinologica ◽

10.1530/eje.1.02294 ◽

2006 ◽

Vol 155 (6) ◽

pp. 877-885 ◽

Cited By ~ 100

Author(s):

Trine H Johannsen ◽

Caroline P L Ripa ◽

Erik L Mortensen ◽

Katharina M Main

Keyword(s):

Quality Of Life ◽

Disorders Of Sex Development ◽

Diagnostic Procedures ◽

Well Being ◽

Structured Interview ◽

Life Assessment ◽

Hormone Deficiency ◽

Hopkins Symptom Checklist ◽

Sex Development

Objective: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). Design: An open case-control study. Methods: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by ‘Quality of Life-Assessment of Growth Hormone Deficiency in Adults’ (QoL-AGHDA) and three symptom scales from the ‘Hopkins Symptom Checklist’ (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. Results: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01). Conclusion: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.

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The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development

BioMed Research International ◽

10.1155/2015/342420 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 5

Author(s):

Chunqing Wang ◽

Qinjie Tian

Keyword(s):

Quality Of Life ◽

Social Relationship ◽

Disorders Of Sex Development ◽

Androgen Insensitivity Syndrome ◽

Chinese Patients ◽

Sexual Life ◽

Process Of Care ◽

Sex Development ◽

The Difference

Objective. In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China.Design. Case-control study was carried out.Patients.90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner’s syndrome (23), Noonan syndrome (2), androgen insensitivity syndrome (22), testicular regression syndrome (2), congenital adrenal hyperplasia (16), and pure gonadal dysgenesis (22).Measurements. The WHOQOL-BREF questionnaire was chosen for the present investigation. Four domain scores were analyzed independently including physical, psychological, and social relationship and environmental domains.Results. The average age of the DSD group is 22.34 ± 4.97 years, and only 13.79% patients ever had sexual life. The scores of psychological and environmental domains were lower than that of the physical and social relationship domains, but the difference was not significant (P>0.05). Compared with the Chinese urban population, the QOL scores of DSD patients in China were not significantly lower.Conclusions. With proper treatment, including the follow-up and psychological support, the QOL of DSD patients cannot be significantly reduced. For DSD patients, more attention should be paid to the potential psychological and sexual problems.

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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

Frontiers in Pediatrics ◽

10.3389/fped.2021.627281 ◽

2021 ◽

Vol 9 ◽

Author(s):

Silvano Bertelloni ◽

Nina Tyutyusheva ◽

Margherita Valiani ◽

Franco D'Alberton ◽

Fulvia Baldinotti ◽

...

Keyword(s):

Disorders Of Sex Development ◽

Gender Assignment ◽

Salt Wasting ◽

Personalized Care ◽

Sex Development ◽

Sex Assignment ◽

Differences Of Sex Development ◽

Life Threatening

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. A mismatch between prenatal karyotype and female phenotype is an increasing reason for presentation. Gender assignment should be avoided prior to expert evaluation and possibly until molecular diagnosis. The classic diagnostic approach is time and cost-consuming. Today, a different approach may be considered. The first line of investigations must exclude rare life-threatening diseases related to salt wasting crises. Then, the new genetic tests should be performed, yielding increased diagnostic performance. Focused imaging or endocrine studies should be performed on the basis of genetic results in order to reduce repeated and invasive investigations for a small baby. The challenge for health professionals will lie in integrating specific genetic information with better defined clinical and endocrine phenotypes and in terms of long-term evolution. Such advances will permit optimization of counseling of parents and sex assignment. In this regard, society has significantly changed its attitude to the acceptance and expansion beyond strict binary male and female sexes, at least in some countries or cultures. These management advances should result in better personalized care and better long-term quality of life of babies born with 46,XY DSD.

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Social Wellbeing and Quality of Life of People Living with Disorders of Sex Development and Sex Re-Assignment in Nigeria: A Qualitative Phenomenological Study

The Qualitative Report ◽

10.46743/2160-3715/2021.3699 ◽

2021 ◽

Author(s):

Abdurrahman Sani ◽

Ismaila Mungadi ◽

Ismi Ismail ◽

Mohd Arshad ◽

Kim Soh

Keyword(s):

Quality Of Life ◽

Social Isolation ◽

Multidisciplinary Team ◽

Disorders Of Sex Development ◽

Sexual Pleasure ◽

Sex Development ◽

Social Wellbeing ◽

The Social ◽

Qualitative Phenomenological

Disorders of sex development is a complex interaction between biological, psychological, social, and cultural factors, making it necessary for the multidisciplinary team to decide on the individualized patient basis. The characteristics of the individual patient, family and the social background are taken into consideration in order to derive maximum benefit. In developing countries, many people living with disorders of sex development faced serious psychological and social traumas such as marginalization, rejection, isolation, feeling of sadness, feeling of uncertainty, and feeling of shame. Therefore, this study explores the social wellbeing and quality of life of people with disorders of sex development in Nigeria. We used qualitative phenomenological approach to explore the social wellbeing and quality of people with disorders of sex development in Nigeria. We recruited thirteen participants using purposive sampling technique from Usmanu Danfodiyo Teaching Hospital Sokoto, Nigeria. We conducted data collection exercise using face to face interviews, transcribed, and analysed using interpretative phenomenological analysis technique with the aid of NVivo software. Four themes emerged from the data that describe the social wellbeing and quality of life of people with disorders of sex development in Nigeria. These themes are socialization and social isolation, intimate relationships, sexuality, and relationships with people. Participants experienced social isolation, marital problems, poor sexual experience, absence of sexual pleasure and stigmatization. People with disorders of sex development had poor social wellbeing which negatively affects their quality of life. Findings would inform the multidisciplinary team the need to incorporate social wellbeing of people with disorders of sex development in their treatment and the need to explore public perception on people living with disorders of sex development in Nigeria.

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