Work

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

Year: 2024

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.67496

Authors: Srinija Garlapati, Shailaja V Mane, Supriya Gupte, Sajili Mehta, Aryan Gupta, Om Prasanth Reddy Avuthu

Institutions: Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune, Bharati Vidyapeeth (Deemed to be University)

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4401730582