When pediatric patient Kevin first came to Mount Sinai’s Pediatric Endocrinology team in 2022 at the age of 18, he was seeking answers. Despite a previous diagnosis of Klinefelter syndrome (47,XXY), a condition in which males have an additional X chromosome, which affects one in 600, Kevin was not receiving comprehensive or follow-up treatment for related symptoms. He exhibited typical symptoms of the condition—a tall stature compared to family members, lower muscle tone, and delayed speech.
Kevin was referred to Christopher Romero, MD, Associate Professor, Pediatrics, Endocrinology and Diabetes, and Medical Education, Icahn School of Medicine at Mount Sinai. He was seen through the Pediatric Klinefelter Syndrome and Other X,Y Aneuploidy Conditions Program, which provides coordinated, multidisciplinary care for children and adolescents with chromosomal variations.
Kevin is a pediatric patient receiving treatment for Klinefelter syndrome (47,XXY) at Mount Sinai.
Early detection is essential for comprehensive care. The Pediatric Klinefelter Syndrome and Other X,Y Aneuploidy Conditions Program not only provides direct treatment but also supports pediatric providers with guidance on pubertal development and potential developmental concerns. The team offers prenatal genetic and endocrine consultations, including counseling for expecting mothers who have had invasive prenatal testing, such as chorionic villus sampling and amniocentesis, and noninvasive prenatal testing, to enable timely diagnosis and intervention for optimal outcomes.
Under Dr. Romero’s supervision, Kevin began a personalized hormone replacement plan to address testosterone deficiency, improve energy levels, and support healthy pubertal development. The endocrinology team carefully monitored his progress, adjusting therapy based on hormone levels and clinical milestones. With a multidisciplinary approach to his care, the program referred Kevin to the Urology team, where Neha Malhotra, MD, Associate Professor, Pediatrics, and Urology, Icahn School of Medicine, met with Kevin to discuss fertility preservation while on treatments.
Kevin and his family noted the importance of the strong rapport he developed with Dr. Romero throughout his care. This trusted relationship helped Kevin feel comfortable during appointments and confident in sharing symptoms and concerns, which was instrumental in ensuring he received the appropriate treatment.
Now a young adult, Kevin continues to receive coordinated care focused on long-term wellness and independence. His care plan emphasizes healthy weight management, prevention of metabolic complications, and continued support for emotional and reproductive health. By transitioning him to an autoinjectable testosterone regimen, the team helped Kevin gain confidence and independence while minimizing potential risks of using topical treatment in a shared household. His case underscores Mount Sinai’s multidisciplinary, patient-centered approach to complex genetic conditions.
“Through close collaboration among endocrinologists, genetic counselors, psychologists, and nursing staff, and a focus on education, autonomy, and long-term health, our team is helping patients like Kevin manage Klinefelter syndrome into adulthood and beyond,” says Dr. Romero.
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Christopher Romero, MD
Associate Professor, Pediatrics, Endocrinology and Diabetes, and Medical Education, Icahn School of Medicine at Mount Sinai