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Endocrinology 2018
Journal of Clinical and Molecular Endocrinology
ISSN: 2572-5432
Page 41
August 09-10, 2018
Madrid, Spain
11
th
International Conference on
Endocrinology and
Diabetology
W
e are presenting a 40 years old man with history of
asymptomatic hypocalcaemia which was found during
routine testing , calcium level 1.97 mmol/l, phosphate 0.94
mmol/l , PTH of 1.4 pmol/l (1.3 -9.4) and vitamin D of 27 ng/l ,
24 urinary calcium of 4.6 mmol/l (2.5- 7.5) with urine volume of
2.5 L. The reason for low calcium was not clear ,but during the
course of the investigation patient told us that his daughter who
is 10 years old also found to have hypocalcaemia this together
with the inappropriate low normal PTH low trigger the possibility
of likely genetic cause of the hypocalcaemia this was confirmed
with the presence of CaSR mutation, and the diagnosis of
autosomal dominant hypocalcaemia was established. Prevalence
of autosomal dominant hypocalcemia is unknown. The condition
is likely underdiagnosed because it often associated with no
signs or symptoms; however patient can presented with severe
symptomatic hypocalcemia and seizures. Probably in the absence
of stigmata of autoimmune hyperparathyroidism genetic causes
should be investigated even without significant family history
which is sometimes difficult to elicit. The condition usually doesn’t
require treatment, this patient was initially treated with calcium and
vitamin D but this was subsequently stopped as the urinary calcium
started to rise, calcium level remains within accepted level.
Biography
Dr Ali Ahmed is final year specialist registrar at Hull royal infirmary, Dr Najeeb
Shah is specialist registrar in endocrinology , Dr Kmarudeen Mohammed is
senior endocrinology and honorary lecturer at HYMS university , he also the
programmer director of the endocrinology training at Yorkshire deanery in UK .
aliwadooda@yahoo.comCase of autosomal dominant hypocalcaemia
Ali Ahmed, Najeeb Shah
and
Kamrudeen Mohammed
Centre of endocrinology Hull royal infirmary, Hull HU3 2JZ, UK
Ali Ahmed et al., J Clin Mol Endocrinol 2018, Volume 3
DOI: 10.21767/2572-5432-C2-006