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Volume 24, Issue 14
  • ISSN: 1871-5303
  • E-ISSN: 2212-3873

Abstract

Background

This study reported a case of micropenis caused by a novel hemizygous mutation in the ADGRG2 gene, which aimed to expand the understanding of sexual dysplasia caused by ADGRG2 gene mutation.

Case Presentation

We present the clinical data and genetic test results of a patient with micropenis admitted in September, 2022, to the Tongji Hospital. The patient was a 9-year-10-month-old male whose chief complaint was the presence of a short penis over a period of three years. In April 2016, the patient underwent corrective surgery for a clubbed penis. Upon admission to the study hospital, his height and weight were 145.0 cm (75-90th percentile) and 37.8 kg (50-75th percentile), respectively, and his BA was 12 years old. His physical characteristics included a normal face, bilateral testicle size of 2 ml, and penile length of about 3 cm. A gonadotrophin-releasing hormone-stimulating test revealed normal hypothalamic-pituitary-gonadal axis function. An HCG stimulation test indicated normal sperm production in the testis. Key abnormalities from auxiliary examinations included low testosterone and high ACTH, dehydroepiandrosterone sulfate, androstenedione, and 17-OH-P levels. Genetic testing revealed a new hemizygous mutation, a splicing mutation in intron 4 of the ADGRG2 gene (ChrX: 19040187 (NM_001079858.3): c.154 + 2T > A, inherited from the mother.

Conclusion

This study reported a case of micropenis caused by a new hemizygous mutation in the ADGRG2 gene. This indicates the importance of genetic testing and gene-guided treatments to improve prognosis.

© 2024 Bentham Science Publishers
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2024-02-22
2025-01-10

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/content/journals/emiddt/10.2174/0118715303282511240206105343
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Novel Finding of Micropenis Caused by Mutation of the ADGRG2 Gene: A Case Report and Literature Review
Endocr Metab Immune Disord Drug Targets 24, 1698 (2024); https://doi.org/10.2174/0118715303282511240206105343
/content/journals/emiddt/10.2174/0118715303282511240206105343
/content/journals/emiddt/10.2174/0118715303282511240206105343
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  • Article Type:     Case Report
Keyword(s): ADGRG2; gonadotrophin-releasing hormone stimulating; human chorionic gonadotropin stimulation test; letrozole; Micropenis; splicing mutation

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