Quality of Life in Children with Disorders of Sex Development

Selveindran, Nalini M; Zakaria, Syed Zulkifli Syed; Jalaludin, Muhammad Yazid; Rasat, Rahmah

doi:10.1159/000478780

Cited by 11 publications

(3 citation statements)

References 33 publications

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“…Those raised as females, rarely decide to change sex, well accepted in society even in the cases with a clear gender dysphoria although it requires removal of the testes, breast implantation, vaginoplasty and long-term, if not lifelong, hormonal therapy [25]. Male sex of rearing, on the other hand, helps to avoid lifelong hormonal therapy and allows the potential for fertility [10,26]. However, infrequent collision of the child's and/or parents' wishes, as well as the recommendations of the medical team, makes the process of decision making in these children among the most complicated issues in medicine.…”

Section: A B Discussionmentioning

confidence: 99%

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Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis

Kočova

Plaseska-Karanfilska

Noveski

et al. 2019

Balkan Journal of Medical Genetics

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Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly characterized patients from the Republic of North Macedonia (RN Macedonia) with a different clinical course due to the time of the diagnosis. Diagnosis of Patient 1 was based upon the detection of bilateral inguinal testes and testosterone/dihidrotestosterone ratio. Sex reversal was initiated by testes removal at the age of 20 months. Breast implantation and vaginoplasty were performed in adolescence and the girl is comfortable with the female sex. Her sibling, Patient 2, raised as a girl, was clinically assessed at 11.5 years due to the growth of phalus, deep voice and Adam’s apple enlargement. No change of gender was accepted. Complex molecular analysis including multiplex quantitative fluorescent polymerase chain reaction (PCR) screening for sex chromosome aneuploidies and SRY presence, Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA), microarray-based comparative genomic hybridization (aCGH), and real-time PCR analysis for detection of exon copy number changes confirmed a novel c.146C>A (p.Ala49Asp) point mutation in the first exon inherited from the mother, and complete deletion of the first exon and adjacent regions inherited from the father. Novel genotype causing 5-ARD is presented. Genetic analysis is useful for the diagnosis and timely gender assignment in patients with 5-ARD. However, final gender assignment is difficult and requires combined medical interventions.

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Section: A B Discussionmentioning

confidence: 99%

“…A different sex of rearing has been selected in affected individuals even within the same family. The success of functional sex formation and resultant quality of life is variable [2,10].…”

mentioning

confidence: 99%

Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis

Kočova

Plaseska-Karanfilska

Noveski

et al. 2019

Balkan Journal of Medical Genetics

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“…In addition to varying structural anomalies and significant medical challenges, patients affected by a DSD may also experience a range of psychosocial difficulties, including an increased risk of depression, gender dysphoria, low self-esteem and a reduced quality of life in some DSD presentations. 1–4 Similarly, parents of children with a DSD report a diminished quality of life and elevated symptoms of anxiety, depression and post-traumatic stress. 5–9 In addition to these psychosocial outcomes, patients and families also face difficult medical decisions related to early gender assignment and hormonal treatments during puberty, and are subjected to considerable ethical and legal controversies surrounding surgical interventions.…”

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confidence: 99%

Satisfaction and Shared Decision Making in a Multidisciplinary Care Clinic for Patients with Differences in Sex Development

et al. 2021

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Introduction:Patients with differences in sex development represent a complex pediatric population with varying psychosocial and medical needs. Due to the complexity of care, families likely benefit from multidisciplinary care allowing for coordination of psychosocial and health services. Unfortunately, there are few data on the experiences of families of patients with differences of sex development in a multidisciplinary setting, such as their satisfaction with health care or their level of shared decision making.Methods:Patients and guardians seen in a multidisciplinary, differences in sex development clinic were asked to participate in an anonymous online survey of their satisfaction with health care delivery (Patient Satisfaction Questionnaire Short Form) and involvement in shared decision making (Shared Decision Making Questionnaire). Welch's t-test was used to compare mean survey scores to historical and contemporary control populations.Results:In all, 22 guardians and 1 young adult patient completed surveys. Median patient age was 36 months. Patient diagnoses were diverse, with the most common diagnosis beings 46, XY DSD (34.8%). At the time of their clinic visit, 7 patients had undergone surgery. Mean satisfaction scores were higher than a primary care population and comparable to patients and patients' caregivers with chronic medical conditions. The mean shared decision making score was well above adult populations and similar to caregiver reports in pediatric outpatient clinics.Conclusions:Despite the complex treatment associated with differences of sex development, families are very satisfied with the quality of care they receive in a multidisciplinary setting and appear to feel personally invested in the decision making process.

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Teenaged DSD Child: Psychosocial Issues and Decision-making—Parental Perspectives

Gambhir,

Chadha

2024

Children With Differences in Sex Development

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Quality of Life in Children with Disorders of Sex Development

Cited by 11 publications

References 33 publications

Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis

Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis

Satisfaction and Shared Decision Making in a Multidisciplinary Care Clinic for Patients with Differences in Sex Development

Teenaged DSD Child: Psychosocial Issues and Decision-making—Parental Perspectives

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