The proposita presented with neonatal hypocalcemic seizures. Serum calcium was 1.5 mmol/L (normal, 2.0-2.5); phosphate was 3.6 mmol/L (normal, 0.9-1.5). She was born to consanguineous parents. [ncbi.nlm.nih.gov]

Clinical Characteristics Ocular Features: Lens opacities may be present. Systemic Features: The major signs and symptoms result from hypocalcemia. Neuromuscular irritability and various paresthesias may be present. [disorders.eyes.arizona.edu]

Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

• Short Arm

  The GCM2 gene is located on the short arm of chromosome 6 (6q24.2). This mutation has been identified in several families with isolated hypoparathyroidism. [rarediseases.org]

  Human parathyroid hormone gene (PTH) is on short arm of chromosome 11. Somatic Cell Genet 1983 ; 9: 609 –16. 34. Pritchard-Jones K, Fleming S, Davidson D, et al.. The candidate Wilms' tumour gene is involved in genitourinary development. [nejm.org]

• Suggestibility

  We found that in none of the 23 affected individuals was there absence of the parathyroid hormone gene or abnormal restriction patterns to suggest recognizable deletions, insertions, or rearrangements. [ncbi.nlm.nih.gov]

  These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother. [jstage.jst.go.jp]

  The dental findings in this patient are suggestive of reduced bone reparative capacity due to low serum Ca levels. [jisponline.com]

• Abnormal Thyroid Function Test

  39 THE THYROID NODULE 374 HORMONE ERNEST L MAZZAFERRI 402 THYROID HORMONE RESISTANCE KENNETH D BURMAN 428 THYROID FUNCTION TESTS 329 and LEONARD WARTOFSKY 440 THYROID SONOGRAPHY COMPUTED and MARTIN 1 SURKS 454 ABNORMAL THYROID FUNCTION TEST 47 THYROID [books.google.com]

Management and treatment Management consists of symptomatic treatment with supplementary calcium and vitamin D. The documents contained in this web site are presented for information purposes only. [orpha.net]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Standard Therapies Treatment Treatment is aimed at raising calcium levels high enough to provide symptom relief without causing abnormally high levels of calcium excretion in the urine (hypercalciuria). [rarediseases.org]

Prognosis The regular monitoring required to ensure appropriate calcium levels means that the prognosis is challenging for many people. This may improve if synthetic PTH becomes widely available. [patient.info]

Etiology FIH may be due to an activating mutation of the calcium-sensing receptor ( CASR ) gene. This is the most common cause of genetic hypoparathyroidism and is transmitted as an autosomal dominant trait. [orpha.net]

As the patient had a second episode of hypocalcemia despite calcium supplements, other etiologies for this were sought for. [indianpediatrics.net]

This interesting case highlights the importance of hypoparathyroidism as an etiology of recurrent seizures. A 17-year old female presented to us with a history of generalized tonic clonic seizures of 20 min duration. [jnsbm.org]

It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism. [books.google.com]

Genatlas disease for PTH Gene hypoparathyroidism,familial,isolated,dominant and recessive types Relevant External Links for PTH Genetic Association Database (GAD) PTH Human Genome Epidemiology (HuGE) Navigator PTH Tumor Gene Database (TGDB): PTH Atlas [genecards.org]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. [en.wikipedia.org]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011 Oct;26(10):2317-37. Al-Azem H, Khan AA. Hypoparathyroidism. [shifrinmd.com]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res 2011;26:2317–2337. 11. [synapse.koreamed.org]

Mutation of the signal sequence constitutes a novel pathophysiologic mechanism in man, and further study may yield important insights both into this form of hormone deficiency and into the role of signal sequences in human physiology. [ncbi.nlm.nih.gov]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. [en.wikipedia.org]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011 Oct;26(10):2317-37. Al-Azem H, Khan AA. Hypoparathyroidism. [shifrinmd.com]

This hormone elevates blood Ca2+ levels by dissolving the salts in bone and preventing their renal excretion. It is produced in the parathyroid gland as an 84 amino acid single chain polypeptide. [pathnsitu.com]

[provided by RefSeq, Jul 2008] UniProt Comments for PTH PTH: PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. [mybiosource.com]

Function PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells. [abcam.com]

[…] sudden cardiac death - guidance (IPG603) Source: National Institute for Health and Care Excellence - NICE - 20 December 2017 Evidence-based recommendations on subcutaneous implantable cardioverter defibrillator insertion for preventing sudden cardiac [evidence.nhs.uk]

Precautions are taken to prevent seizures or larynx spasms. The heart is monitored for abnormal rhythms until the person is stable. [en.wikipedia.org]