|Year : 2020 | Volume
| Issue : 4 | Page : 196-197
A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome
Sufyan Benamer1, Paul Jennings2
1 Diabetes and Endocrinology Consultant, York Hospital, York, UK
2 Diabetes and Endocrinology Centre, York Hospital, York, UK
|Date of Submission||31-Aug-2020|
|Date of Acceptance||24-Nov-2020|
|Date of Web Publication||28-Dec-2020|
Dr. Sufyan Benamer
Diabetes and endocrinology centre, York Hospital, Wigginton Road, YO31 8HE
Source of Support: None, Conflict of Interest: None
Hypocalcemia is a common electrolyte disturbance with a variety of causes. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome is a rare autosomal-dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease. This is a case presentation of HDR syndrome that had been referred to a hospital with hypocalcemia. This case has a unique feature as it has been diagnosed in adult age because usually HDR syndrome is diagnosed in pediatric age group.
Keywords: Hypocalcemia, hypoparathyroidism, HDR syndrome, renal, sensorineural deafness
|How to cite this article:|
Benamer S, Jennings P. A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome. Libyan J Med Sci 2020;4:196-7
|How to cite this URL:|
Benamer S, Jennings P. A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome. Libyan J Med Sci [serial online] 2020 [cited 2022 Aug 9];4:196-7. Available from: https://www.ljmsonline.com/text.asp?2020/4/4/196/305247
| Introduction|| |
Hypocalcemia is a common presentation to acute medical departments, ambulatory care units, and endocrinology services. Calcium concentration is influenced by parathyroid hormone (PTH), Vitamin D, calcium ions, and phosphate. Hypocalcemia is often caused by disorders in PTH or Vitamin D. Low calcium level with low PTH could be due to destruction of the parathyroid gland (postsurgery or autoimmune), altered development of parathyroid gland, or abnormal regulation of PTH production or secretion. Postsurgical hypocalcemia is the most common cause. Hypocalcemia, sensorineural deafness, and renal disease (HDR syndrome) is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal disease., Mutations in GATA-binding protein 3 (GATA3), a gene localized to the chromosome region 10p14-15, have been detected in families affected by the syndrome. GATA3 is involved in the development of PTH, kidneys and inner ear, thymus, and central nervous system.,
| Case Report|| |
A 30-year-old female patient was referred to the hospital with symptoms of generalized fatigue, mouth numbness, and tingling. Her past medical history included bilateral sensorineural deafness with hearing aids since childhood. In addition, she had inborn unilateral renal agenesis. There was no previous history of calcium metabolism disorder with any history of previous hospital admission. Her father had bilateral sensorineural deafness.
Biochemical evaluation showed low adjusted calcium level at 1.85 mmol/L (normal level 2.2–2.6 mmol/L), high phosphate level at 1.7 mmol/L (normal value 0.8–1.5 mmol/L), low PTH level at 1.2 pmol/L (normal level 1.6–6.9 pmol/L), normal Vitamin D at 55 nmol/L (normal level 40–60 pmol/L), normal magnesium at 1 mmol/L (normal level at 0.85–1.1 mmol/L), and mild renal impairment with urea at 8 mmol/L and creatinine at 110 μmol/L (normal urea 2.5–7 mmol/L and normal creatinine 60–100 μmol/L) [Table 1]. Her ultrasound showed right renal agenesis. There were no electrocardiogram changes.
Based on her clinical presentation with hypocalcemia, sensorineural deafness, and renal impairment, HDR syndrome was suspected and genetic analysis was undertaken which showed mutations in GATA3, which confirmed HDR syndrome.
She was treated with calcium supplement, alfacalcidol, and is under regular follow-up with endocrinology services. This is an uncommon presentation of HDR syndrome as it usually presents at younger age group.
| Discussion|| |
Hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R” (HDR syndrome), also known as Barakat syndrome, is an autosomal-dominant disorder caused by germline inactivating mutations of the GATA3 gene., GATA3 encodes a transcription factor that is involved in embryonic development of the parathyroid glands, inner ear, and kidneys.,, HDR syndrome has a wide phenotypic variability. The triad of HDR syndrome is found in 64.5% of patients. The diagnosis of HDR syndrome could be confirmed in patients who have the triad of HDR syndrome or two of the three factors of HDR syndrome with a positive family history. In patients with isolated nonsurgical hypoparathyroidism, “H,” “D,” and “R” are not found, and hence HDR syndrome is not considered in the diagnosis.
Hypoparathyroidism has a variable age of onset and is characterized by asymptomatic or symptomatic presentation; this could range from mild symptoms of tingling and numbness to tetany and convulsion., The majority of patients have symmetrical sensorineural deafness and could range from mild to profound in severity., Renal anomalies in HDR syndrome are also heterogeneous and include renal dysplasia, hypoplasia, or aplasia, nephritis syndrome, cystic disease, and vesicoureteric reflux.
HDR syndrome is a rare autosomal genetic disorder with variable age presentation. Our patient had the full triad of HDR syndrome with peculiar late age of diagnosis, compared to that of other reported HDR cases.
| Conclusion|| |
Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis with a wide range of clinical manifestations including hypocalcemia, renal abnormalities, and deafness.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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