Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility

De la Chapelle Syndrome, also known as 46 XX disorders, is a genetic condition that affects sexual development and presents challenges, in physical, hormonal, and genetic aspects.

This case study explores a 42-year man with de la Chapelle Syndrome who experienced primary subfertility for eight years. The patient demonstrated delayed development of secondary sexual characteristics, shrinking testes and sparse hair distribution. A team comprising fertility specialists, uro surgeons, endocrinologists and genetic counselors collaborated to develop an approach. Based on the patients 46 XX karyotype without sex-determining region Y gene mutation assisted reproduction using donor sperm was chosen as the option. The report delves into the genetics of both sex-determining region Y gene positive and sex-determining region Y gene negative cases while emphasizing the significance of conducting thorough evaluations for issues related to sexual differentiation.

Management strategies encompass an approach tailored to factors such as age, fertility desires and level of virilization exhibited by the patient. Surgical interventions, hormone treatments and psychological support all play roles in the management. Limited fertility treatment options are available for cases involving XX syndrome with testes such as intrauterine insemination using donor sperm and assisted reproduction with donor sperm. This case underscores the difficulties associated with delayed diagnosis.

Highlights the importance of adopting an approach that addresses fertility concerns along with endocrine issues and psychological support when managing de la Chapelle Syndrome.