Novel Finding of Micropenis Caused by Mutation of the ADGRG2 Gene: A Case Report and Literature Review

Title:Novel Finding of Micropenis Caused by Mutation of the ADGRG2 Gene: A Case Report and Literature Review

Volume: 24 Issue: 14

Author(s): Yiling Cui, Ningyi Song and Ling Hou*

Affiliation:

• Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, China

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 (75-90^th percentile) and 37.8 kg (50-75^th 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.

Cite this article as:

Cui Yiling, Song Ningyi and Hou Ling*, Novel Finding of Micropenis Caused by Mutation of the ADGRG2 Gene: A Case Report and Literature Review, Endocrine, Metabolic & Immune Disorders - Drug Targets 2024; 24 (14) . https://dx.doi.org/10.2174/0118715303282511240206105343