A Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA

Area of Science:

• Genetics
• Endocrinology
• Immunology

Background:

• Monosomy 18p syndrome is a chromosomal disorder characterized by the deletion of genetic material on the short arm of chromosome 18.
• Polyglandular autoimmune syndrome (PAS) type IIIA is an autoimmune condition affecting multiple endocrine glands.

Observation:

• A 34-year-old male patient presented with features of monosomy 18p syndrome, including intellectual disability, short stature, and distinctive facial characteristics.
• The patient also exhibited symptoms consistent with polyglandular autoimmune syndrome type IIIA, including autoimmune thyroiditis, primary hypothyroidism, and type 1 diabetes mellitus.

Findings:

• Chromosome analysis confirmed the diagnosis of monosomy 18p syndrome (46,XY,del(18)(p11.2)).
• The co-occurrence of monosomy 18p syndrome and polyglandular autoimmune syndrome type IIIA was observed in this patient.

Implications:

• This case highlights a potential association between monosomy 18p syndrome and autoimmune diseases.
• Clinical suspicion of monosomy 18p syndrome should prompt investigation for endocrine deficiencies and autoimmune conditions.