A Case of Ayme-Gripp Syndrome

This case study presents a 35-year-old female diagnosed with Ayme-Gripp Syndrome (AGS), characterized by cataracts, seizures, oligodontia, and hair loss, alongside elevated TSH levels indicating subclinical hypothyroidism. The diagnosis was confirmed through trio exome sequencing, revealing a de novo pathogenic variant in the MAF gene. AGS is known for its triad of cataract, sensorineural hearing loss, and distinct facial features, with 21 affected individuals reported globally. The patient's symptoms included short stature, brachycephaly, and premature hair loss, aligning with AGS characteristics. The study highlights the importance of considering rare genetic conditions in the differential diagnosis of endocrinopathies, as these can now be identified through genomic testing. The patient will undergo regular monitoring of thyroid function and has been referred to cardiology and nephrology for further evaluation.