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MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male

41-year-old male with history of anxiety, bipolar disorder, depression, cognitive developmental delay, Idiopathic Thrombocytopenic Purpura (ITP), Vit D deficiency, tinnitus, suicidal attempt, auditory hallucination, borderline intellectual functioning comes to the PCP’s office for regular follow-up....

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Autores principales: Tharu, Biswaraj, Bishal, Khanal, Basnet, Sijan, Adhikari, Nawaraj, Tharu, Sunraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208414/
http://dx.doi.org/10.1210/jendso/bvaa046.2242
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author Tharu, Biswaraj
Bishal, Khanal
Basnet, Sijan
Adhikari, Nawaraj
Tharu, Sunraj
author_facet Tharu, Biswaraj
Bishal, Khanal
Basnet, Sijan
Adhikari, Nawaraj
Tharu, Sunraj
author_sort Tharu, Biswaraj
collection PubMed
description 41-year-old male with history of anxiety, bipolar disorder, depression, cognitive developmental delay, Idiopathic Thrombocytopenic Purpura (ITP), Vit D deficiency, tinnitus, suicidal attempt, auditory hallucination, borderline intellectual functioning comes to the PCP’s office for regular follow-up. The PCP has noted that the patient was hypocalcemic on multiple visits. On exam, vitals were in normal range, height 5 feet 2 inches, BMI 31 kg/m(2).Despite the patient being on calcium and Vit D2 pills for a couple of months, his Calcium level were low ranging from 5.8–7.8mg/dl (normal 8.5-10.1) with normal albumin; ionized calcium was low 0.9-0.97mmol/l (normal 1.12-1.23); Magnesium was normal 2mEq/L (normal 1.5-2.5), phosphorus slightly high 5 mg/dL (normal 2.5-4.9), PTH (ParaThyroid Hormone level) was low-normal 18.8pg/ml (normal 11.1-79.5), vitamin D 25 OH low 16ng/ml (normal 30-100); 1,25 di OH vitamin D low 8ng/ml (normal25-40).Thyroid ultrasound showed 2 benign nodules, no further work-up done. TSH and free T4 were normal. FISH (Fluorescence In Situ Hybridization) came positive for DiGeorge syndrome (deletion at 22q11.2). He was treated with calcium 600 mg 4 pills daily, calcitriol 0.25 mcg two pills daily, Vit D2 50000 IU weekly and thiazide diuretic. His labs improved. DISCUSSIONHypocalcemia can be due to low magnesium level, drugs or associated with high or low PTH. The patient had normal magnesium and he was not on any medication that causes hypocalcemia. This rules out first two casues. Hypocalcemia with high PTH (pseudohypoparathyroidism or low vit D levels) doesn’t fall in our differential because our patient had low PTH. For hypocalcemia with low PTH, differentials include post-surgical condition (no surgical history), autoimmune (history and labs not suggestive of), infiltrative diseases (eg hemochromatosis- he had normal iron study, Wilson disease- normal copper level, granulomas- contrary he had low 1,25 Di OH vit D). Hypocalcemia secondary to genetic parthyroid gland anomaly was thought to be most likely in our patient. So FISH was pursued. Conclusion: For patients with cognitive issues, persistence of chronic hypocalcemia (with low PTH) despite treatment should prompt for genetic disorders like DiGeorge. DiGeorge is usually the diagnosis of children. Perhaps this is the first case of DiGeorge diagnosed so late at age of 41.
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spelling pubmed-72084142020-05-13 MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male Tharu, Biswaraj Bishal, Khanal Basnet, Sijan Adhikari, Nawaraj Tharu, Sunraj J Endocr Soc Bone and Mineral Metabolism 41-year-old male with history of anxiety, bipolar disorder, depression, cognitive developmental delay, Idiopathic Thrombocytopenic Purpura (ITP), Vit D deficiency, tinnitus, suicidal attempt, auditory hallucination, borderline intellectual functioning comes to the PCP’s office for regular follow-up. The PCP has noted that the patient was hypocalcemic on multiple visits. On exam, vitals were in normal range, height 5 feet 2 inches, BMI 31 kg/m(2).Despite the patient being on calcium and Vit D2 pills for a couple of months, his Calcium level were low ranging from 5.8–7.8mg/dl (normal 8.5-10.1) with normal albumin; ionized calcium was low 0.9-0.97mmol/l (normal 1.12-1.23); Magnesium was normal 2mEq/L (normal 1.5-2.5), phosphorus slightly high 5 mg/dL (normal 2.5-4.9), PTH (ParaThyroid Hormone level) was low-normal 18.8pg/ml (normal 11.1-79.5), vitamin D 25 OH low 16ng/ml (normal 30-100); 1,25 di OH vitamin D low 8ng/ml (normal25-40).Thyroid ultrasound showed 2 benign nodules, no further work-up done. TSH and free T4 were normal. FISH (Fluorescence In Situ Hybridization) came positive for DiGeorge syndrome (deletion at 22q11.2). He was treated with calcium 600 mg 4 pills daily, calcitriol 0.25 mcg two pills daily, Vit D2 50000 IU weekly and thiazide diuretic. His labs improved. DISCUSSIONHypocalcemia can be due to low magnesium level, drugs or associated with high or low PTH. The patient had normal magnesium and he was not on any medication that causes hypocalcemia. This rules out first two casues. Hypocalcemia with high PTH (pseudohypoparathyroidism or low vit D levels) doesn’t fall in our differential because our patient had low PTH. For hypocalcemia with low PTH, differentials include post-surgical condition (no surgical history), autoimmune (history and labs not suggestive of), infiltrative diseases (eg hemochromatosis- he had normal iron study, Wilson disease- normal copper level, granulomas- contrary he had low 1,25 Di OH vit D). Hypocalcemia secondary to genetic parthyroid gland anomaly was thought to be most likely in our patient. So FISH was pursued. Conclusion: For patients with cognitive issues, persistence of chronic hypocalcemia (with low PTH) despite treatment should prompt for genetic disorders like DiGeorge. DiGeorge is usually the diagnosis of children. Perhaps this is the first case of DiGeorge diagnosed so late at age of 41. Oxford University Press 2020-05-08 /pmc/articles/PMC7208414/ http://dx.doi.org/10.1210/jendso/bvaa046.2242 Text en © Endocrine Society 2020. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Bone and Mineral Metabolism
Tharu, Biswaraj
Bishal, Khanal
Basnet, Sijan
Adhikari, Nawaraj
Tharu, Sunraj
MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title_full MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title_fullStr MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title_full_unstemmed MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title_short MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
title_sort mon-lb63 hypocalcemia-a clue to digeorge syndrome; a very rare case diagnosed in a 41 year male
topic Bone and Mineral Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208414/
http://dx.doi.org/10.1210/jendso/bvaa046.2242
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