Endocrine Abstracts

JOINT3932

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the absence of expression of paternally inherited genes on chromosome 15q11-q13. It is characterized by neonatal hypotonia, developmental delay, hyperphagia, obesity, and endocrine dysfunction.

Case Report: We present the case of a 3-year-old boy born to non-consanguineous parents, with a history of neonatal hypotonia at birth. Clinical examination revealed overweight (26 kg, +3 SD), facial dysmorphism characterized by a narrow forehead, almond-shaped eyes, strabismus, and hypoplastic genitalia with non-palpable testes. Due to ambiguous genitalia, a karyotype was performed, revealing a male chromosomal formula (46,XY). Based on the clinical findings, Prader-Willi syndrome was suspected. A methylation-specific PCR analysis of the SNRPN locus was conducted, confirming the absence of paternal contribution in the 15q11-q13 region, thus establishing the diagnosis of PWS.

Discussion: PWS is characterized by hormonal dysfunction, neonatal hypotonia, hyperphagia, learning difficulties, and behavioral disorders. In cases of severe neonatal hypotonia, an etiological investigation is crucial, particularly when associated with early feeding difficulties. The main complications of this syndrome arise from autonomy challenges and obesity, highlighting the importance of a multidisciplinary management approach to improve quality of life and long-term outcomes.

Keywords: Prader-Willi syndrome, neonatal hypotonia, hyperphagia, genetic disorder, methylation analysis, multidisciplinary management.