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  • 46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation

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Case Reports: Rare disease
46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation
  1. Namburi Divyasri,
  2. Padmanabha Varma,
  3. Sumana Kunnuru and
  4. Beatrice Anne
  1. Dept. Of Endocrinology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
  1. Correspondence to Dr Beatrice Anne; maglarne{at}gmail.com

Abstract

A child, who was reared as male, presented in his early childhood to the endocrine clinic with penoscrotal hypospadias which was noticed at birth. On examination, he had both gonads in the scrotal sacs with complete scrotal fusion, rugosities and chordee with a single opening. He had increased palmoplantar skin desquamation. As an initial part of the workup, karyotyping was done, which was 46,XX. To rule out the most common cause of 46,XX disorder of sex development (DSD) in phenotypical males (SRY - Sex Determining Region Y gene - translocation), fluorescent in situ hybridisation for SRY was done, which was negative. Whole exome sequencing revealed a homozygous loss of function mutation in the R-Spondin1 gene. Here we report a rare case of 46,XX DSD with loss of function mutation in the R-Spondin1 gene associated with skin abnormalities.

  • Endocrinology
  • Genetics

https://doi.org/10.1136/bcr-2023-255466

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    Footnotes

    • Contributors ND performed the literary review, data collection, interpreted the data, drafted and reviewed the work. BA, PV, SK were all part of the treatment team for the patient, who contributed to planning, analysis and reviewing the case report.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.