Dataset Information

"Good practices" in pediatric clinical care for disorders/differences of sex development.

ABSTRACT:

Purpose

To define, benchmark, and publicize elements of quality care (i.e., "good practices") for pediatric patients with disorders/differences of sex development (DSD).

Methods

Principles of quality care were identified by literature review; consensus exists for 11 good practices and adherence was evaluated through online survey of 21 North American clinical sites.

Results

Strong uptake was observed for many practices, particularly specialty participation (n ≥ 17 of 21 sites for most core specialties); point of contact (n = 18); expertise in gender dysphoria/dissatisfaction (n = 20); and DSD-specific continuing medical education (n = 18). Greater variability was apparent for frequency of peer support referrals (n = 12 universally practiced); standardized questionnaires for routine assessment of psychosocial adaptation (n = 13) and gender development (n = 10); consistently clarifying patient/family values in decision-making (n = 15); genital exam protocols that exclude trainee education as primary reason (n = 15); and internal patient-tracking efforts (n = 5-10 of 20 sites).

Conclusion

This study employed a novel approach to designate DSD good practices and identified areas of consistency and variation in these DSD clinical practices. Good practice benchmarking facilitates quality assessment within and across sites, promotes continuous improvement, and empowers stakeholders in locating and delivering high quality care.

SUBMITTER: Kavanaugh GL

PROVIDER: S-EPMC8325784 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Publications

"Good practices" in pediatric clinical care for disorders/differences of sex development.

Kavanaugh Grace L GL Mohnach Lauren L Youngblom Janey J Kellison Joshua G JG Sandberg David E DE

Endocrine 20210521 3

<h4>Purpose</h4>To define, benchmark, and publicize elements of quality care (i.e., "good practices") for pediatric patients with disorders/differences of sex development (DSD).<h4>Methods</h4>Principles of quality care were identified by literature review; consensus exists for 11 good practices and adherence was evaluated through online survey of 21 North American clinical sites.<h4>Results</h4>Strong uptake was observed for many practices, particularly specialty participation (n ≥ 17 of 21 sit ...[more]

PMID: 34021489

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Project description:Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/or genital development specifically. MAMLD1 is one of the recognized DSD genes. However, its role is controversial as some MAMLD1 variants are present in normal individuals, several MAMLD1 mutations have wild-type activity in functional studies, and the Mamld1-knockout male mouse presents with normal genitalia and reproduction. We previously tested nine MAMLD1 variants detected in nine 46,XY DSD patients with broad phenotypes for their functional activity, but none of the mutants, except truncated L210X, had diminished transcriptional activity on known target promoters CYP17A1 and HES3. In addition, protein expression of MAMLD1 variants was similar to wild-type, except for the truncated L210X. We hypothesized that MAMLD1 variants may not be sufficient to explain the phenotype in 46,XY DSD individuals, and that further genetic studies should be performed to search for additional hits explaining the broad phenotypes. We therefore performed whole exome sequencing (WES) in seven of these 46,XY patients with DSD and in one 46,XX patient with ovarian insufficiency, who all carried MAMLD1 variants. WES data were filtered by an algorithm including disease-tailored lists of MAMLD1-related and DSD-related genes. Fifty-five potentially deleterious variants in 41 genes were identified; 16/55 variants were reported in genes in association with hypospadias, 8/55 with cryptorchidism, 5/55 with micropenis, and 13/55 were described in relation with female sex development. Patients carried 1-16 variants in 1-16 genes together with their MAMLD1 variation. Network analysis of the identified genes revealed that 23 genes presented gene/protein interactions with MAMLD1. Thus, our study shows that the broad phenotypes of individual DSD might involve multiple genetic variations contributing towards the complex network of sexual development.

Project description:dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality.The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants' was 32.4 (+/- 13.6 years).Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition.German Clinical Trials Register DRKS00006072 .

Dataset Information

"Good practices" in pediatric clinical care for disorders/differences of sex development.

Purpose

Methods

Results

Conclusion

Publications

"Good practices" in pediatric clinical care for disorders/differences of sex development.

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