A clinical case of an LHCGR gene mutation leading to Leydig cell hypoplasia and disordered sex development

Disorders of sex development (DSD) are increasingly discussed in modern medicine. Advances in diagnostic methods have led to an increased identification of individuals with these conditions. This study presents a rare case of a patient with DSD and describes the treatment strategy. A male infant, aged 11 months, was admitted to the urology department for inpatient treatment with a diagnosis of 46XY DSD accompanied by suspected urogenital sinus and vaginal aplasia. According to the medical history, the child’s sex at birth could not be determined with certainty. Externally, the genitalia resembled female structures with incomplete feminization. Karyotyping confirmed a 46XY result. Physical examination in the pediatric hospital revealed that the external genitalia did not correspond to the karyotype. Bilateral, painless, and mobile gonad-like masses were palpated in the inguinal region. The urethral opening was located under a hypertrophied clitoris between hypoplastic labia minora. The labia majora exhibited transverse folds resembling a scrotum, and the vaginal introitus was absent. Whole-exome sequencing identified two mutations in the LHCGR gene. Diagnostic laparoscopy confirmed the absence of Müllerian and Wolffian duct remnants. A multidisciplinary medical council recommended that the parents raise the child as a female, and bilateral orchiectomy was performed. A feminizing genitoplasty is planned. This clinical case illustrates the management of a patient with DSD, emphasizing the key factors influencing treatment decisions. The availability of genetic testing in patients with DSD enables precise identification of the underlying cause, allowing for early adaptive surgical intervention, before the age of gender self-identification. Further analysis of these mutations and their clinical manifestations will contribute to improving the management of patients in this population.