ESPE Abstracts (2016) 86 P-P2-184

DiGeorge Syndrome and 10p Deletion

Erkan Sari, Hatice Akar, Onur Akin, Cengiz Zeybek, Salih Kozan, Bulent Unay & Ediz Yesilkaya

Gulhane Military Medical Academy, Ankara, Turkey

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.

Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and her birth weight was 2500 g. The patient has presented with facial dysmorphic features and psychomotor retardation soon after birth. She was investigated by department of pediatric nephrology due to consecutive urinary tract infections. Vesicoureteral reflux and renal dsyplasia were detected. The other findings were broad forehead, hypertelorism, flattened nose, anteverted nostrils, micrognathia, underdeveloped and low-set ears. Low serum PTH and calcium level (PTH 5.8 pg/ml, calcium 7.8 mg/dl) were detected. Auditory brain stem response testing revealed that the patient had sensorineural deafness.

Results: Due to atypic facial features, hypocalcemia, hypoparathyoidism, renal displasia and deafness HDR Syndrome was considered as diagnosis. Karyotype analysis demonstrated 10p deletion.

Conclusion: 10p deletion should be considered in patients with hypoparathyroidism who has not DGS phenotype or in cases in which 22q11 deletion was not detected inspite of DGS phenotype presence.

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