# Presentation of Sex Chromosomal Disorders of Sex Development With Genital Ambiguity: A Case Report on a Rare Medical Condition

## TL;DR

A rare case of Klinefelter syndrome in an infant presented with ambiguous genitalia, highlighting the importance of genetic testing for accurate diagnosis.

## Contribution

This case report highlights the atypical presentation of Klinefelter syndrome with genital ambiguity, emphasizing the need for genetic evaluation in such cases.

## Key findings

- A 47,XXY karyotype was confirmed in an infant with ambiguous genitalia.
- Elevated FSH and low testosterone levels supported the diagnosis of Klinefelter syndrome.
- Comprehensive diagnostic methods including genetic and endocrinological assessments are essential for accurate diagnosis.

## Abstract

Klinefelter syndrome (KS; XXY syndrome) is a common chromosomal abnormality associated with various physical and developmental characteristics. It rarely presents with ambiguous genitalia, a feature more typical of disorders of sex development (DSDs). Here, we describe a case of a five-month-old male infant with 47,XXY karyotype who presented with ambiguous genitalia which include bifid scrotum, small phallus, and penoscrotal hypospadias. Initial anthropometry and ultrasound evaluations were followed by hormonal and genetic analyses. Elevated follicle-stimulating hormone and low testosterone levels led to further testing, including a human chorionic gonadotropin stimulation test and karyotyping, which confirmed 47,XXY KS. This case underscores the need for thorough genetic evaluation in infants presenting with ambiguous genitalia, highlighting that KS can present with features overlapping DSDs. Comprehensive diagnostic approaches combining genetic, endocrinological, and clinical assessments are crucial for accurate diagnosis and management. This case aims to raise awareness among paediatricians about the potential for atypical genital presentations in KS and the importance of karyotype analysis in such scenarios.