Recommendations for the Establishment of Disorders/Differences of Sex Development Interdisciplinary Care Clinics for Youth

Bakula, Dana M.; Sharkey, Christina; Wolfe‐Christensen, Cortney; Mullins, Amy; Meyer, J; Mullins, Larry L.; Wisniewski, Amy B.

doi:10.1016/j.pedn.2017.08.032

Cited by 9 publications

(3 citation statements)

References 38 publications

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“…Parent financial concerns should be evaluated, in addition to income, for families attending DSD clinics, as parents with higher income also experienced distress. Although referral to specialty DSD clinics is recommended by professional societies, 27,28 due to expert multipledisciplinary support, it is not known whether travel and financial constraints is assessed as a risk factor.…”

Section: Discussionmentioning

confidence: 99%

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development

et al. 2019

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Purpose: To evaluate demographic, financial, and support predictors of distress for parents of young children with Disorders of Sex Development (DSD) including atypical genital development, and to characterize early parental experiences. This extends our previous findings to identify those parents at risk for distress. Materials and Methods: Participants included mothers (n = 76) and fathers (n = 63) of a child (n = 78) diagnosed with DSD characterized by moderate to severe genital atypia. Parents

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Section: Discussionmentioning

confidence: 99%

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development

et al. 2019

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“…Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. DSD includes a wide range of phenotypes, such as 46,XY DSD, 46,XX DSD, and chromosomal DSD [ 1 ]. The incidence rate among subjects with 46,XY to have a DSD has been estimated to be 1 in 20,000 births globally [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

Jia

et al. 2022

BMC Med Genomics

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Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD. Methods Exome sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger sequencing. Results The 13-month-old younger sibling had a female appearance of the external genital with a clitoris that was assessed as Prader III and scored 2 in the external masculinization score evaluative test. The 16-year-old elder sibling had severe hypospadias. Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. The (c.937G > T) substitution mutation was derived from the mother. Conclusions Novel compound heterozygous mutations of DHH led to 46,XY DSD in two siblings. This study expands the phenotypic mutation spectra of DHH in patients with 46,XY DSD.

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“…Thus, the current study is one of the first to examine and describe pediatric parenting stress among parents of youth with DSD. It is recommended that youth with DSD be treated within interdisciplinary care clinics (Bakula et al, 2017), and that psychosocial screening of patient-reported outcomes be integrated into routine practice in order to identify youth and families in need of behavioral health interventions (Mattson et al, 2019). Therefore, screening for pediatric parenting stress during an interdisciplinary DSD clinic can yield information on the degree of pediatric parenting stress experienced by parents and help to identify parents who may benefit from additional psychosocial support.…”

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confidence: 99%

Screening for pediatric parenting stress in parents of youth with differences of sex development.

Papadakis¹,

Poquiz²,

Johnson³

et al. 2022

Clinical Practice in Pediatric Psychology

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Objective: Parents of children with differences of sex development (DSD) may be at risk for general parenting stress, but little is known about their experience of stress specific to caring for a child with a chronic illness, known as pediatric parenting stress. This study describes pediatric parenting stress in parents of youth with DSD by examining (a) differences in stress levels between mothers and fathers, and (b) associations with demographic and medical characteristics. Methods: Participants included parents of 137 youth ages less than 1 month to 20 years attending an interdisciplinary DSD Clinic [age M(SD) = 6.91(6.50); most common diagnosis: 46, XY DSD of unknown etiology]. Parents completed the Pediatric Inventory for Parents (PIP; Streisand et al., 2001) during clinic, and demographic and medical information was collected via chart review. Results: Mothers and fathers reported similar levels of pediatric parenting stress. Parents of youth who were non-White, had public insurance, or had sex chromosome DSD reported more pediatric parenting stress across several subscales. Conclusions: Certain parents of youth with DSD are at higher risk for pediatric parenting stress. Routine screening for illness-specific parenting stress may identify families who require additional evaluation to support adaptive coping and identify specific targets for intervention. Jaclyn L. Papadakis https://orcid.

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Recommendations for the Establishment of Disorders/Differences of Sex Development Interdisciplinary Care Clinics for Youth

Cited by 9 publications

References 38 publications

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development

Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

Screening for pediatric parenting stress in parents of youth with differences of sex development.

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