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Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness by Karel Dandurand; Dalal Ali; Susan Tran; Tina Zhou; Aliya Aziz Khan is a Medicine article available to read on EtoBox.

What is Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness about?

## Abstract Background: Congenital hypoparathyroidism can be related to autosomal dominant mutations or deletions in GATA-binding protein 3 gene on chromosome 10^1,2^. Affected patients present with a triad of hypoparathyroidism, renal dysplasia and neurosensorial deafness. We hereby present the case of a patient with the rare Barakat syndrome, also known as HDR syndrome. Clinical Case: A 11-year-old girl, diagnosed with deafness at birth, was brought to medical attention because of menorrhagia requiring blood transfusions two months after menarche. A pelvic ultrasound demonstrated a septate uterus as well as right multicystic dysplastic kidney with solitary left kidney and ovary. As her maternal grandmother, mother and older sister suffered from congenital deafness and her mother also had a kidney cyst, the patient was referred to genetics to identify a unifying cause of the autosomal dominant pattern of deafness and urogenital anomalies. Chromosome microarray analysis revealed a copy number change on chromosome 10p14 of 1925 kb predicted to result in the deletion of a single protein coding gene, GATA3. Embryonically, GATA3 is involved in the development of the inner ear, kidneys

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Author

Karel Dandurand; Dalal Ali; Susan Tran; Tina Zhou; Aliya Aziz Khan

Publisher

Oxford University Press

Published

2021

Language

EN

Field

Medicine (Health Sciences)