SFEBES2021 Poster Presentations Bone and Calcium (22 abstracts)
Undiagnosed probable genetic primary hyperparathyroidism presenting with brown tumors and deafness
Bhavna Sharma 1 , Asjid Qureshi 1 , Mushtaqar Rahman 1 , Neil Tolley 2 , Rajesh Thakker 3 , Elaine Hui 1 , Shivshankar Seechurn 1 , Denis Remedios 1 , Ian Seetho 1 , Mahesh Deore 1 , Michele Mantega 1 & Abdul Mateen 1
1Northwick Park Hospital, London, United Kingdom; 2Imperial College Healthcare NHS Trust, London, United Kingdom; 3University of Oxford, Oxford, United Kingdom
A 25 year old Afghan male presented with a 4 day history of worsening left-sided loin pain. He had a past history of deafness since birth, speech problems and development delay. Bilateral renal calculi and widespread multiple well defined lytic lesions (likely brown tumours) were seen on CT-KUB. The corrected calcium was 3.21 mmols/l, PTH 80 pmol/l, Vitamin D 25 nmol/l, phosphate 0.49 mmols/l, ALP 960 IU/l and fractional calcium excretion was 0.16. His skull X Ray/OPG, done due to prominent skull and jaw deformities, revealed early pepperpot skull appearances with bilateral ossicular abnormalities along with brown tumours throughout the jaw and maxilla. Audiology revealed mixed conductive and sensorineural hearing loss. An ultrasound revealed a large necrotic mass below the lower pole of the left lobe of thyroid, measuring 3.9 x 2.7 x 3 cm; Sestamibi scanning showed concordant results, suggesting a left-sided parathyroid adenoma. Other investigations revealed a GGT of 12 U/l; and normal TSH, FSH, LH, IGF-1, prolactin, cortisol and 24-hour urinary metanephrines (done to ascertain MEN/known syndrome associations.) Pedigree charting revealed a family history of renal calculi and deafness affecting grandparents, both parents, maternal uncle and sibling. There was an extensive history of consanguinity. Extended genetic testing done including AP2S1, CASR, CDC73, CDKN1B and MEN1 genes and exons 5, 7, 8, 10, 11, 13, 14, 15, 16 of the RET gene, GCM2 and GATA3: all were negative. A left hemi-thyroidectomy and left parathyroidectomy was done due to uncertain diagnostics. Histology was consistent with a parathyroid adenoma. Although genetic testing was negative and a literature search revealed no similar case, we still remain concerned that our patient has genetic hyperparathyroidism due to an as yet unidentified mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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