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]

Defects in the calcium-sensing receptor gene: Presents as hypocalcaemia, inappropriately normal levels of PTH and raised phosphate levels. This is not true hypoparathyroidism but its presentation mimics it. Can present from birth to adulthood. [patient.info]

It is divided into Type 1 PHP, Type 2 PHP and pseudo-pseudohypoparathyroidism on the basis of presenting signs and investigations. [asean-endocrinejournal.org]

• Asymptomatic

  The mother and maternal grandfather also possess the deletion; both are asymptomatic with normal calcium and phosphorus levels (Fig 2 ). Fig 2. [pediatrics.aappublications.org]

  Her asymptomatic son was also referred to a geneticist and the molecular genetic test performed at the age of 7 months did not confirm the diagnosis of PHP type Ib. [elsevier.es]

  Including asymptomatic cases, the prevalence of the disease has been shown to be over 1% in the studies in Western societies using highly sensitive tests such as anti-endomisium antibody and tissue transglutaminase antibody tests (2). [turkjem.org]

  PHPIb, a complex and diagnostically challenging clinical phenotype, can be treated successfully by taking steps before the manifestation of symptoms to avoid clinical complications in affected patients or asymptomatic members of affected families who [clinchem.aaccjnls.org]

• Pain

  Bone pain: bone turnover is abnormally low and bone mineral density is typically increased. [ 12 ] Abdominal pain. Paraesthesiae (tingling, vibrating, burning and numbness) of the face, fingers and toes. Facial twitching. Carpopedal spasm. Stridor. [patient.info]

  PAROXYSMAL EXTREME PAIN DISORDER GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 FAMILIAL FEBRILE CONVULSIONS, TYPE 3B Nav beta4 (N168/6) LONG QT SYNDROME 10 Neurexin-1 (N170A/1, N170A/26) PITT-HOPKINS-LIKE SYNDROME TYPE 2 Neuroligin-3 (N110/ [neuromab.ucdavis.edu]

  […] intelligence Type 1b defect in GNAS1 (Gs α protein) normal appearance Type 2 unknown gene defect downstream defect distal to formation of cAMP normal appearance Presentation Symptom symptoms of hypocalcemia paresthesia fingertip, toes, perioral abdominal pain [orthobullets.com]

  Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain [ipfs.io]

  Although the clinical picture varies with the extent and severity of intestinal involvement, the disease frequently causes bone and muscle pains, cramps, tetany, rickets and osteoporosis (3). [turkjem.org]

• Goiter

  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 [books.google.com]

• Osteoporosis

  A generalized and marked osteoporosis and short metacarpals are evident to roentgenograms of the hands. [moh-it.pure.elsevier.com]

  Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.com]

  Vogel et al., Contemporary diagnostics and therapy of osteoporosis] Zentralbl Chir. 131, 401 (2006) [charite.de]

  Although the clinical picture varies with the extent and severity of intestinal involvement, the disease frequently causes bone and muscle pains, cramps, tetany, rickets and osteoporosis (3). [turkjem.org]

  PTH As yet, PTH is not commercially available to treat hypoparathyroidism. [ 16 ] However, recombinant PTH is used for the treatment of postmenopausal osteoporosis. [ 17 ] PTH replacement improves serum calcium and lowers serum phosphate. [patient.info]

• Chvostek Sign

  sign contraction of facial muscles with percussion of the facial nerve C ontraction of C heek = C hvostek Trousseau sign carpal spasm with occlusion of brachial artery with a blood pressure Tr icep spasm = Tr ousseau sign Albright hereditary osteodystrophy [medbullets.com]

  Clinical signs Chvostek's sign: detects latent tetany: Tapping of the fifth facial nerve in front of the ear with the patient's mouth slightly open causes contraction of the facial muscles. [patient.info]

  Latent signs of tetany in the form of positive Chvostek's sign and Trousseau's sign were present. We decided to re-evaluate him in view of late age of onset of symptoms, absence of AHO phenotype, and to confirm the diagnosis. [ijem.in]

• Round Face

  […] parathyroid hormone levels; due to lack of end-organ responsiveness to parathyroid hormone. pseudohypoparathyroidism hereditary, sex-linked, dominant disorder resembling hypoparathyroidism; characterized by short stature, round face, achondroplasia, [medical-dictionary.thefreedictionary.com]

  Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. [checkorphan.org]

  The condition causes short stature, round face, obesity, developmental delay, and short hand bones. Symptoms depend on whether you inherit the gene from your mother or father. Type Ib involves resistance to PTH only in the kidneys. [hellodoktor.com]

  On examination, round chubby face, short neck, short stature and obesity were observed. [asean-endocrinejournal.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]

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

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]

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]

Results: CT of the brain that has been made at the beginning before treatment showed slightly dispersed calcification spread radially between gray and white matter. [abstracts.eurospe.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 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. http://doi.org/cq6d. Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. [revistas.unal.edu.co]

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]

[…] 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]

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]

Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016;84(6):904-11. http://doi.org/cq6f . [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]

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]

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]

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

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]

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]