A case of antiepileptic-induced vitamin D deficiency, who presented with hypocalcemia, hyperphosphatemia with increased tubular reabsorption of phosphate mimicking pseudohypoparathyroidism type 2, is reported. [ncbi.nlm.nih.gov]

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]

The clinical features of Albright hereditary osteodystrophy (AHO; see 103580) are not present in PHP II (Mantovani and Spada, 2006). [malacards.org]

PTH, TSH, Luteinizing Hormone (LH), Follicular Stimulating Hormone (FSH), and Growth Hormone Releasing Hormone (GHRH)) is present. [omicsonline.org]

• Poor Growth

  الصفحة 50 - Hambidge KM, Hambidge C, Jacobs M, Baum JD: Low levels of zinc in hair, anorexia, poor growth and hypogeusia in children. ‏ [books.google.com]

• Thyroid Nodule

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.com]

• Long Arm

  arm of chromosome 20, which comprises the GNAS locus, 9–11 but most apparently sporadic cases have not yet been resolved at the molecular level 5,8,12–16 raising the question as to whether alternative mechanisms could explain the methylation changes [elsevier.es]

• Ataxia

  Ankyrin-B (N105/13, N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION [neuromab.ucdavis.edu]

Because of her clinical and biochemical presentation we suspected pseudohypoparathyroidism and additional workup confirmed our diagnosis. [omicsonline.org]

Clinical inquiries: what is the best workup for hypocalcemia? J Fam Pract. 2008;57(10):677-9. Kuzel AR, Lodhi MU, Rahim M. Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review. [revistas.unal.edu.co]

• Abnormal Thyroid Function Test

  THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.com]

• Prolonged QT Interval

  QT interval 0001657 Percent of people who have these symptoms is not available through HPO Hypocalcemia Low blood calcium levels 0002901 Sporadic No previous family history 0003745 Showing of 13 Last updated: 12/1/2018 If you need medical advice, you [rarediseases.info.nih.gov]

  Other possible investigations: ECG: prolonged QT interval which may progress to ventricular fibrillation or heart block. Echocardiogram: cardiac abnormalities (in DiGeorge's syndrome). Renal ultrasound: looking for renal calculi. [patient.info]

He showed remarkable improvement with calcium and vitamin D treatment with normalisation of serum calcium and phosphate with reestablishment of phosphaturic response. [ncbi.nlm.nih.gov]

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]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.de]

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 To date, no specific genetic alteration responsible for this disorder has been detected. [rarediseases.info.nih.gov]

Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. Arch Endocrinol Metab. 2016;60(6):532-6. . Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. [revistas.unal.edu.co]

[…] no apparent clinical symptoms and may show only a mild PTH elevation as evidence of PTH resistance. 2 However, some patients with this disorder may present with symptomatic hypocalcemia leading to abnormal movements suggestive of a primary neurologic etiology [pediatrics.aappublications.org]

More than one factor (local or systemic) plays a role in etiology of hypocalcemia in Celiac disease. Calcium absorption is impaired due to intestinal malabsorption caused by mucosal lesions, which results in subnormal serum calcium levels. [turkjem.org]

This suggests that GNAS signaling has a more extensive role in chondrocyte maturation than was previously believed. [8] Etiology PHP type 1a Several other peptide hormones, including thyroid-stimulating hormone (thyrotropin), antidiuretic hormone, gonadotropins [emedicine.medscape.com]

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]

Epidemiology The prevalence is unknown. Clinical description The clinical manifestations of PHP-2 have been poorly characterized but are similar to those seen in pseudohypoparathyroidism type1b (PHP-1b; see this term). [rarediseases.info.nih.gov]

Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016;84(6):904-11. . [revistas.unal.edu.co]

Goitre epidemiology: Thyroid volume, iodine excretion, thyroglobulin and thyrotropin in Germany and Sweden. Acta Endocrinol 1 12:494501. ‎ [books.google.es]

Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun. 101 (6):2284-99. [Medline]. [Full Text]. Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. [emedicine.medscape.com]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.com]

The underlying pathophysiology in PHP is a defect at the PTH-receptor (genetic mutation in the alpha subunit of the receptor G-protein causing altered messenger action), leading to end organ resistance to the action of PTH. [indianpediatrics.net]

[…] calcemic and phosphaturic response to bovine parathyroid extract as compared to hypoparathyroid patients, hence the concept of hormone resistance came into being. [5] Later on, with the discovery of the PTH receptor and its mechanism of action, the basic pathophysiology [asean-endocrinejournal.org]

Pathophysiology Genetics A heterozygous mutation of the GNAS gene that encodes the G stimulatory α subunit (Gsα) of guanine nucleotide-binding protein leads to a loss of expression or function of the Gsα, which impairs the transmission of stimulatory [emedicine.medscape.com]

Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications. Neoplasia. 2015 Jan;17(1):55-65. doi: 10.1016/j.neo.2014.10.010. [fr.ap-hm.fr]

The goals of treatment are to correct the calcium deficiency and prevent complications. Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). [checkorphan.org]

On follow up, serum calcium levels and urinary calcium/creatinine were monitored to achieve good calcemic control and to prevent calciuria. TFT were monitored six monthly. [indianpediatrics.net]

It is crucial to emphasize the importance of treatment adherence that may prevent further symptoms. [elsevier.es]

Even when the calcium level is normal, administration of calcitriol and calcium is recommended to suppress the PTH production and prevent osseous lesions secondary to elevated blood PTH. 6 References [1] M.A. Levine. [analesdepediatria.org]