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  1. Variable clinical phenotypes in a family with homozygous c.1159G>A mutation in the thyroid peroxidase gene
    Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R, Kang IN, et al.
    Horm Res Paediatr, 2014;81(5):356-60.
    PMID: 24717978 DOI: 10.1159/000359922
    Defects in the thyroid peroxidase (TPO) gene have been associated with goitrous congenital hypothyroidism (CH).
  2. The Timing of Genital Surgery in Somatic Intersexuality: Surveys of Patients' Preferences
    Meyer-Bahlburg HFL
    Horm Res Paediatr, 2022 Jan 19.
    PMID: 35045418 DOI: 10.1159/000521958
    In recent years, intersex advocates, medical ethicists, and lawmakers have increasingly demanded a delay of genital surgery that is not acutely medically necessary in patients with somatic intersexuality to the age of consent. This study provides a review of published surveys of affected patients' own opinions on this issue. In part with a search of PubMed 2000-2021, ten pertinent surveys of patients were identified: three from the U.S., four from European countries, and one each from Brazil, China, and Malaysia. All were based on samples of clinic patients, most of whom had previously undergone genital surgery. The majority of both XX and XY patients with somatic intersexuality favored early surgery, with somewhat more syndrome-specific variability in XY patients. The available survey data clearly indicate that a mandatory delay of genital surgery in all patients with somatic intersexuality to the age of consent would disregard the wishes of the majority of surveyed patients. A syndrome- and syndrome-severity-specific individualized approach to surgery decisions appears more appropriate.
  3. Fulltext Quality of Life in Children with Disorders of Sex Development
    M Selveindran N, Syed Zakaria SZ, Jalaludin MY, Rasat R
    Horm Res Paediatr, 2017;88(5):324-330.
    PMID: 28965114 DOI: 10.1159/000478780
    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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