scholarly journals SAT-371 Severe Hypocalcemia Secondary to Pseudohypoparathyroidism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Neelima Ghanta ◽  
Derick Adams

Abstract Introduction: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by PTH resistance due to a mutation in the GNAS gene causing decreased cyclic AMP generation. The 5 subtypes of PHP include type 1a, 1b, 1c, 2, and pseudo-PHP with type 1a being the most common. Patients with PHP present with hypocalcemia, hyperphosphatemia, appropriately elevated PTH, and suppressed calcitriol levels. PHP type 1a patients have characteristic features including obesity, short stature, round facies, and shortened metacarpals. PHP patients should be evaluated for other endocrinopathies as mutations in the GNAS gene may result in resistance to other hormones like TSH, GHRH, and gonadotropins. Case Report: This patient is a 25 year old male who presented to clinic for evaluation of hypocalcemia. He denied any personal or family history of calcium disorders, thyroid disease, or parathyroid disease. He admitted to severe fatigue and muscle cramps for over one year leading to a car accident. He was sent to the emergency room and diagnosed with hypocalcemia requiring IV calcium gluconate. He was then seen by his family physician and was found to have elevated intact PTH and low 25-hydroxy vitamin D levels. He was placed on cholecalciferol 5000 international units (IU) daily, ergocalciferol 50,000 IU once weekly, calcium carbonate 500 mg (6 tablets daily), and referred to endocrinology. The physical exam was unremarkable. The laboratory values tested were an intact PTH of 645 pg/mL (10–65 pg/mL), ionized calcium of 4.2 mg/dL (4.6–5.08 mg/dL), magnesium of 2.1 mg/dL (1.5–2.3 mg/dL), 25-OH vitamin D of 31.7 ng/mL (20–100 ng/mL), and creatinine of 0.81 mg/dL (0.7–1.3 mg/dL) four months after starting the above mentioned calcium and vitamin D supplementation. Further testing revealed a phosphorus level of 4.8 mg/dL (2.3–4.7 mg/dL), calcitriol level of 55.8 pg/mL(19.9–79.3 pg/mL), TSH of 10.46 uIU/mL (0.4–4.2 uIU/mL) and free T4 of 1.5 ng/dL (0.8–1.7 ng/dL). His labs were consistent with PHP. Although unknown which PHP subtype, it is likely not type 1a as he lacks its characteristic phenotype. His abnormal thyroid function tests may be secondary to TSH resistance associated with the GNAS gene mutation. He was told to continue the current dose of calcium carbonate but to discontinue ergocalciferol and cholecalciferol. He was placed on calcitriol 0.5 mcg daily. He will have repeat levels of his ionized calcium, calcitriol, TSH, and free T4 in two weeks. If TSH is still above 10 uIU/mL, we will start levothyroxine replacement. Conclusion: Although a rare disorder, clinicians should have a high index of suspicion for PHP to prevent complications of hypocalcemia (tetany, arrhythmias, seizures) and metabolic bone disease from PTH resistance. References: Mantovani, G. Pseudohypoparathyroidism: Diagnosis and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 10, 1 October 2011, Pages 3020–3030.

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A217-A218
Author(s):  
Rujuta Baban Katkar ◽  
Narasa Madam

Abstract Introduction: The production of parathyroid hormone (PTH) is essential for calcium the maintenance of normal mineral metabolism. Parathyroid cells have cell-surface calciumsensing receptors, even small changes in extracellular Ca induce rapid changes in PTH secretion. Hypocalcaemia is a well-recognized manifestation of magnesium deficiency. We present rare case of severe hypocalcemia due to PTH resistance caused by hypomagnesemia related to diet pill. Case Report: 61 year old Hispanic obese female with chronic gastritis on omeprazole 20 mg daily, no other significant past medical and surgical history, not taking any prescribed medications presents to ED with complaints of tingling and numbness around the mouth, abdominal cramps, chest pain, shortness of breath and anxiety. On arrival calcium was found to be 6.0mg/dl(8.2–10.2mg/dl) with ionized calcium of 0.60mmol/l(1.13-1.32mmol/l) and EGFR>90ml/min, Albumin-4.0g/l, Magnesium-1.1mg/dl(1.6–2.3mg/dl), Phosphorus-6.1mg/dl(2.4–4.5mg/dl),rest of the electrolytes were normal. Patient was given IV calcium gluconate 2g and magnesium which helped improving her symptoms. PTH was 1700pg/ml(23-73pg/ml), low Vitamin D 25-hydroxy 20ng/dl(30-100ng/dl). Urinary calcium was <1mg/dl(2.0–17.5mg/dl). Vitamin D1,25- dihydroxy 34pg/ml(18-78pg/ml), PTH-like peptide levels 0.6pmol/l(<4.2pmol/l). EKG was normal no QT interval changes. For 4 weekspatient was taking weight loss medication was given to her by her brother called nucific-bio-x4. Patient had lost 4 pounds while taking the medication and had suppression of appetite. Physical features of pseudohypoparathyroidism were not seen. Patient had poor dietary intake of calcium, denied taking vitamin D supplements. Patient was given calcium acetate 2001 mg TID with meals, calcitriol 0.5mcg daily and calcium gluconate 2g IV intermittently was given. That improved her calcium levels to 6.8mg/dl with ionized calcium-0.90mmol/l. Magnesium was replaced IV and discharged on magnesium oxide 400mg BID to maintain magnesium the normal range. The patient was given loading dose of ergocalciferol 50,000 IUfor 8 weeks. At the time of discharge repeat PTH levels were 1600 pg/ml and calcium levels were 8.2mg/dl. 3D CT of the neck did not parathyroid mass. After discharge patient continued on oral calcium and magnesium to maintain calcium levels between 8.4–10.2mg/dl. After discharge calcium levels were 8.6mg/dl, vitamin D 25-hydroxy levels were 32ng/dl and maintenance dose of vitamin D3 2000 IU daily also continued. Nucific-bio-x4 pill was discontinued. Conclusion: In conclusion, severe life threatening hypocalcemia can occur with unsupervised weight lossmedications due to malabsorption of magnesium in patient with likely mutation in magnesium receptors causing PTH resistance. Vitamin D deficiency worsens hypocalcemia resulting into secondary hyperparathyroidism.


Author(s):  
Anna Grzegory ◽  
Lech Pomorski ◽  
Konrad Pagacz ◽  
Karol Sieniawski ◽  
Krzysztof Kaczka

IntroductionHypocalcaemia remains the most common postoperative complication after total thyroidectomy. The purpose of the study was to evaluate the clinical usefulness of routine preoperative oral calcium and vitamin D supplementation in the prevention of hypocalcaemia after total thyroidectomy.Material and methodsOne hundred fifty-three consecutive patients with nontoxic multinodular goitre were randomly assigned to routinely receive (group B) or not to receive (group A) calcium carbonate (3 g/d) and alfacalcidol (1 µg/d) on the day before surgery and calcium carbonate (1 g/d) and alfacalcidol (1 µg/d) taken once in the morning on the day of operation. Their preoperative 25-hydroxyvitamin D (25-OHD) levels, hypocalcemic symptoms, serum calcium and parathyroid hormone (iPTH) levels were determined 6 and 24 hour postoperatively and 6 weeks after surgery.ResultsSymptomatic hypocalcaemia was observed in 41/153(26.79%) patients. The incidence of symptomatic hypocalcaemia was significantly lower in the supplemented group than in the group not receiving supplementation: 10 of 77 participants (12.99%) versus 31 of 76 patients (40.79%) (p<0.05). The rates of laboratory and severe hypocalcaemia (corrected calcium <2.0 mmol/l) were 67.11% and 28.95% in group A and 50.65% and 9.09% in group B, respectively (p=0.04, p<0.05). There were no significant differences between groups A and B in corrected calcium levels after surgery and postoperative decreases in corrected calcium levels (p=0.06). 112(73.20%) participants had 25-OHD<20 ng/ml. Vitamin D levels did not influence corrected calcium level changes (p=0.98).ConclusionsOral supplementation of calcium and alfacalcidol may help in the prevention of postthyroidectomy hypocalcaemia. Vitamin D deficiency was widespread among operated patients.


2012 ◽  
Vol 52 (1) ◽  
pp. 16
Author(s):  
Ayi Dilla Septarini ◽  
Taralan Tambunan ◽  
Pustika Amalia

Background Children with frequently relapsing and steroiddependentnephrotic syndrome (FRNS/SDNS) are at riskfor osteoporosis due to impaired metabolism of calcium andvitamin D.Objective To determine the effect of calcium and vitamin Dsupplementation on bone mineral density, serum ionized calciumlevels and serum 25-hydroxy-vitamin D levels in children withFRNS and SDNS.Methods A clinical trial with a before and after design wasperformed. Subjects were SDNS or FRNS pediatric patients 2: 5years of age. Subjects received 800 mg elemental calcium and 400IU vitamin D supplementation for 8 weeks. Serum ionized calcium,serum 25-hydroxy-vitamin D [25(0H)D], and bone mineral density(BMD) were determined before and after the supplementation.Results Of the 30 subjects, 28 completed the study. However,only 20 subjects underwent BMD determination before and aftersupplementation. Of the 28 subjects, 22 had hypocalcemia and 26had low vitamin D levels. Osteopenia was found in 14/20 subjects andosteoporosis was in 2/20 subjects. After 8 weeks of supplementation,mean serum ionized calcium increased from low [1.15 mmol/L (SDO.oJ)] to normal [1.18 mmol/L (SD 0.04)] (P< 0.001) levels, butmean serum 25(0H)D only increased from vitamin D deficiencycategory [20 ng/mL (SD 7 .7)] to vitamin D insufficiency category[25.5 ng/mL (7.7)] (P=0.010). Mean z-score BMD increased from-1.1 (SD 0.9) to -0.7 (SD 0.2) after supplementation (P<0.001).Conclusion Calcium vitamin D supplementation effectively increasedserum ionized calcium, serum 25 (OH)D, and BMD in subjectswith FRNS and SDNS. [Paediatr lndones. 2012;52:16-21].


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Shoshana Tell ◽  
Erin Finn ◽  
Rebecca Anne Ohman-Hanson ◽  
Nina Ma

Abstract Background: Mutations in CYP24A1, which encodes 24-hydroxylase, the key enzyme for Vitamin D breakdown, cause symptomatic hypercalcemia and nephrocalcinosis in infants on Vitamin D supplementation. New, symptomatic diagnoses of idiopathic infantile hypercalcemia without exogenous supplementation are rare. Previous case reports describe a seasonal effect with worsening hypercalcemia and hypercalciuria during summertime, attributed to increased sun exposure and endogenous Vitamin D production. Clinical Case: A 10-month-old female presented to endocrine care with hypercalcemia and nephrocalcinosis, detected on renal ultrasound (US) due to history of UTI. Her first renal US and serum calcium (Ca) at 3mo of age were normal. Subsequent renal US at 6mo and 9mo of age demonstrated nephrocalcinosis, prompting nephrology and endocrine evaluation. History was significant for failure to thrive. She was born in the fall, with worsening hypercalcemia and nephrocalcinosis during the summer. Diet consisted of standard infant formula and age appropriate solid foods with no added Vitamin D supplementation (~300 IU/day in her formula). She had no family history of nephrocalcinosis, nephrolithiasis, bone disease, or disorders of Ca regulation. Initial labs were notable for Ca corrected for albumin 11.5 (7.8-11.1 mg/dL), PTH &lt;4 (8.7-77.1 pg/mL), 25-OH-Vitamin D 81 (30-96 ng/mL), 1,25-OH-Vitamin D 23.1 (26.1-95 pg/mL), Urine Ca/creatinine ratio of 0.9 mg/mg (&lt;0.81), normal chromosomal microarray, and normal thyroid function tests. She was started on reduced mineral formula PM 60/40. One week later, repeat Ca level increased to Ca corrected 14.2 (7.8-11.1 mg/dL). She was admitted for IV fluids and pamidronate, and was transitioned to a low Ca and Vitamin D formula (Calcilo), with improvement in Ca levels. Testing revealed an increased ratio of 25-OH-Vitamin D to 24,25-OH-Vitamin D of 192 (normal &lt;25), and genetic testing showed 2 pathogenic missense mutations in CYP24A1 genes: c.1226T&gt;C p.(Leu409Ser) and c.1186C&gt;T p.(Arg396Trp). The Leu409Ser mutation has shown a small amount of 24-hydroxylase activity in previous in vitro analysis. She has continued a low Ca diet with stable Ca corrected of 10.7-10.8 (8.7-9.8 mg/dL) and significantly improved weight gain. Conclusion: This is one of the few documented cases of symptomatic idiopathic infantile hypercalcemia secondary to CYP24A1 mutation in an infant without exogeneous Vitamin D supplementation. Her nephrocalcinosis and hypercalcemia worsened over the summer, suggesting increased sun exposure may have been a contributing factor. This case demonstrates that 1,25-OH-Vitamin D levels may be normal or low in this condition, particularly for individuals with the Leu409Ser mutation who may retain partial 24-hydroxylase function.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A215-A216
Author(s):  
Ru H New ◽  
Matthew J L Hare ◽  
Diana MacKay ◽  
Vidya Kasireddy ◽  
Elna Ellis ◽  
...  

Abstract Introduction: While transient parathyroid insufficiency is not an uncommon complication of thyroidectomy, severe and prolonged hypocalcemia attributed to a combination of post-surgical hypoparathyroidism, hungry bone syndrome (HBS) and hypovitaminosis D is unusual. Clinical Case: A 17-year-old female from a remote community in Australia with Graves’ disease, complicated by exophthalmos and atrial flutter, underwent total thyroidectomy due to challenges with medication adherence leading to persistent thyrotoxicosis. FT4 was &gt;150 pmol/L (normal 10–20 pmol/L) almost two years after diagnosis. Pre-operatively, she received Lugol’s iodine, carbimazole and beta-blockade. The operation was uncomplicated and three parathyroid glands were preserved. Within six hours of thyroidectomy, she developed symptomatic hypocalcemia with corrected calcium 1.9 mmol/L (7.6 mg/dL) (normal 2.2–2.65 mmol/L). PTH level was 0.8 pmol/L (normal 1.4–9.0 pmol/L). Magnesium and phosphate levels were initially normal but hyperphosphatemia developed the following day. 25-OH vitamin D was low (29 nmol/L, normal 50–150 nmol/L) and was corrected with high dose cholecalciferol. Despite use of continuous intravenous calcium gluconate in addition to oral calcium carbonate, as well as both intravenous and oral calcitriol and magnesium, urinary calcium excretion remained undetectable. Teriparatide 20 mcg BD was commenced on post-operative day 14 with no demonstrable improvement in serum calcium. Less than 48 hours after cessation of parenteral calcium on day 18 post-operation, corrected calcium and ionised calcium declined to 1.47 mmol/L (5.9 mg/dL) and 0.46 mmol/L (normal 1.15–1.33 mmol/L) respectively, prompting recommencement of calcium infusion. Her remarkably high requirement for calcium replacement with negligible urinary calcium excretion for at least one month in spite of parenteral calcium infusion for a total of three weeks’ duration is highly suggestive of HBS which became evident due to post-surgical hypoparathyroidism. She had elevated ALP (618 U/L, normal 35–140 U/L) and increased bone resorption marker (N-telopeptide/creatinine 262 nmol BCE/mmol, normal &lt;100 nmol BCE/mmol), with osteopenia at lumbar spine (Z-score -1.7) and femur (Z-score -1.3). Additionally, vitamin D deficiency is likely to have contributed to the severity of hypocalcemia. 60 days after surgery, she was still requiring calcium carbonate 2500 mg QID (4 g/day elemental calcium) and calcitriol 1 mcg TDS. Her phosphate level had normalised and ALP gradually declined to 241 U/L. Clinical Lesson: This case highlights the importance of attaining euthyroid status as early as possible pre-operatively to allow near-complete reversal of thyrotoxicosis-induced osteodystrophy, as indicated by normalisation of serum ALP, and ensuring vitamin D levels are replete prior to thyroidectomy for Graves’ disease.


2018 ◽  
Vol 5 (2) ◽  
pp. 350
Author(s):  
Vigneshwaran Rajendiran ◽  
Dhandapany Gunasekaran ◽  
Soma Venkatesh ◽  
Indumathi Dhayalan ◽  
Rangan Srinivasaraghavan

Background: The range of normal closure time of the anterior fontanelle (AF) is generally regarded to be 4 to 26 months. The objectives of this study was to find out the prevalence of subclinical vitamin D deficiency and hypothyroidism in children aged 18-36 months with open AF.Methods: This is a hospital based, cross-sectional study done over a period of 24 months, in which thyroid function tests and 25-hydroxy-vitamin D levels were done for healthy children aged 18-36 months with open AF; the latter was also done for equal numbers (n=30) of age and sex matched children with closed AF for control values. The mean vitamin D levels and proportion of children of various categories based on vitamin D levels among both the groups were compared.Results: Open AF was seen in 37 children. Seven of them had obvious causes of delayed AF closure and were excluded. In the remaining 30 children, none of the children had abnormal thyroid function tests. 23.3% of the study group had low vitamin D levels; but, the levels were low even in 37% of control group. The mean vitamin D level of the study group (39.05±17.11 ng/ml) was similar to the control group (37.3±14.74 ng/ml).Conclusions: Neither subclinical vitamin D deficiency nor subclinical hypothyroidism accounted for delayed AF closure in this study. 


Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 3593-3593 ◽  
Author(s):  
Mindy L. Simpson ◽  
Leonard A. Valentino

Abstract Background Several predisposing risk factors exist for decreased bone mineral density in patients with hemophilia increasing the likelihood of osteopenia and osteoporosis in this population. We report the findings of a study evaluating the association of vitamin D deficiency, osteoporosis and hemophilia. Objective Describe the findings of a prospective study evaluating vitamin D levels and bone mineral density in patients with hemophilia. We hypothesize that males with hemophilia have decreased vitamin D levels increasing their risk of osteoporosis along with arthropathy and periods of immobility resulting in reduced bone loading. Design/Method Males with hemophilia, age 1-66 years, were eligible for a 3 part study including: 1) data collection on basic health; 2) laboratory measurement of 25-OH Vitamin D, liver enzymes, ionized calcium, magnesium, phosphorus, parathyroid hormone (PTH), and thyroid function tests; and 3) DEXA scan. Results 86 male subjects, age 2-64 years (mean: 19.9, median: 15.0) including 69 (80%) with hemophilia A and 17 (20%) with hemophilia B were enrolled along with 9 (10%) with history of an inhibitor. Vitamin D levels were reduced in 51 (65%) subjects, including 23 (30%) who were vitamin D insufficient (20-29 ng/mL) and 28 (36%) who were vitamin D deficient (<20 ng/mL). Of the 8 enrolled subjects with history of inhibitor who have had vitamin D levels tested, 7 (88%) are abnormally low with range 17-30 ng/mL for all 8. Among the 61 DEXA scans completed, 8 (13%) were abnormal resulting in a diagnosis of osteoporosis – 6 adults and 2 children (age range 12-56 years). The 2 children with abnormal DEXA scans have a history of inhibitor; the 6 adults are all infected with HIV and/or HCV. 7 of the 8 subjects with osteoporosis had vitamin D levels drawn, where 3 (43%) were abnormally low, with a range of only 10-33 ng/mL among all 7. Conclusion Among hemophilia patients enrolled in this study, 65% have abnormally low vitamin D levels which may predispose to decreased bone mineral density over their lifetime. Patients with a history of inhibitor appear to have an increased risk of reduced vitamin D levels. Vitamin D and calcium supplementation may be a simple and inexpensive intervention to address this complication and warrants further investigation in this population. 13% of enrolled subjects had osteoporosis on DEXA where a history of inhibitor or coinfection with HIV and/or HCV is prevalent. High risk subjects may deserve routine screening to allow for earlier intervention. Funding:CSL Behring Foundation grant Disclosures: Valentino: Baxter: Consultancy, Membership on an entity’s Board of Directors or advisory committees; Bayer: Consultancy, Membership on an entity’s Board of Directors or advisory committees; Biogen Idec: Consultancy, Membership on an entity’s Board of Directors or advisory committees; GTC Biotherapeutics: Consultancy, Membership on an entity’s Board of Directors or advisory committees; Inspiration: Consultancy, Membership on an entity’s Board of Directors or advisory committees; Novo Nordisk: Consultancy, Membership on an entity’s Board of Directors or advisory committees.


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