Barakat syndrome diagnosed decades after initial presentation.

Area of Science:

• Genetics
• Endocrinology
• Rare Diseases

Background:

• Barakat syndrome (HDR syndrome) is a rare genetic disorder combining hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R).
• Diagnosis can be challenging due to the rarity and diverse symptoms of HDR syndrome.
• Genetic analysis is crucial for confirming the diagnosis, especially with suggestive clinical presentations and family history.

Purpose of the Study:

• To present a case of Barakat syndrome in a 64-year-old woman.
• To highlight the diagnostic process and genetic findings in a complex case of HDR syndrome.
• To emphasize the importance of considering rare genetic disorders in clinical practice.

Main Methods:

• Clinical case presentation of a 64-year-old woman with a history of hypoparathyroidism and sensorineural deafness.
• Genetic analysis revealing a GATA3:c.916C>T nonsense variant.
• Diagnostic confirmation through audiometry, laboratory tests, and renal imaging.

Main Results:

• A pathogenic GATA3 variant was identified, confirming the diagnosis of Barakat syndrome.
• The patient's symptoms, including progressive sensorineural deafness and idiopathic hypoparathyroidism, were consistent with HDR syndrome.
• The study supports the utility of GATA3 testing in diagnosing Barakat syndrome.

Conclusions:

• Physicians should consider rare genetic disorders like Barakat syndrome in patients with suggestive symptoms, even with late onset.
• Accurate diagnosis of HDR syndrome aids patient understanding and has implications for family members.
• Consistent re-evaluation for genetic disorders is essential in clinical practice.