Results 21 to 30 of about 3,479 (203)

Bilateral Basal Ganglia Calcification (Fahr's Syndrome) Secondary to Hypoparathyroidism: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Three cases of Fahr's syndrome presented with seizures and extrapyramidal features, all linked to hypoparathyroidism with disrupted calcium‐phosphate levels. CT confirmed basal ganglia calcification. Anticonvulsants, calcium, and vitamin D controlled seizures.
Gohar A, Saeed MA, Saif A, Irfan A, Tariq H, Shahzad R, Suhail A, Ahmad H, Ahmad MH.   +8 more
europepmc   +2 more sources

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]

Clin Case Rep
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Pellegrin MC, Tamaro G, Fachin A, Barbi E, Tornese G.   +4 more
europepmc   +2 more sources

Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism [PDF]

American Journal of Roentgenology, 1977
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance.
R C, Ablow, Y E, Hsia, I K, Brandt
openaire   +2 more sources

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

Frontiers in Endocrinology, 2023
ObjectiveiPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested.
Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares   +4 more
doaj   +1 more source

Hypoparathyroidism and pseudohypoparathyroidism [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2006
The principal function of the parathyroid hormone (PTH) is maintenance of calcium plasmatic levels, withdrawing the calcium from bone tissue, reabsorbing it from the glomerular filtrate, and indirectly increasing its intestinal absorption by stimulating active vitamin D (calcitriol) production.
Maeda, Sergio S., Fortes, Erika M., Oliveira, Ulisses M., Borba, Victoria C.Z., Lazaretti-Castro, Marise   +4 more
openaire   +4 more sources

Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients

Frontiers in Endocrinology, 2022
ObjectivesPseudohypoparathyroidism (PHP) is a rare disease, especially when combined with pregnancy. We aimed to explore the changes in serum calcium/parathyroid hormone (PTH) level and medical treatment in a case series of PHP during pregnancy and the ...
Jia-Jia Wang, Yi Yang, Ya-Bing Wang, An Song, Yan Jiang, Mei Li, Wei-Bo Xia, Yan-Ping Liu, Ou Wang, Xiao-Ping Xing   +9 more
doaj   +1 more source

Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

Ожирение и метаболизм, 2018
Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway.
Larisa K. Dzeranova, Nadezhda V. Makazan, Ekaterina A. Pigarova, Anna N. Tiuliakova, Ekaterina V. Artemova, Tatiana V. Soldatova, Denis O. Tulupov, Alexandr V. Vorontsov, Galina A. Mel`nichenko   +8 more
doaj   +1 more source

Snow White and the Seven Dwarfs: a fairytale for endocrinologists

Endocrine Connections, 2021
‘Snow White and the Seven Dwarfs’, a fairytale that is widely known across the Western world, was originally written by the Brothers Grimm, and published in 1812 as ‘Snow White’.
Athanasios Zervas, George Chrousos, Sarantis Livadas   +2 more
doaj   +1 more source

Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant

Children, 2022
Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia.
Su Kyeong Hwang, Ye Jee Shim, Seung Hwan Oh, Kyung Mi Jang   +3 more
doaj   +1 more source

Pseudohypoparathyroidism, Rare Cause of Hypocalcaemia! [PDF]

Journal of Clinical and Diagnostic Research, 2013
Pseudohypoparathyroidism is a rare disorder which is characterized by end organ parathormone resistance, which causes hypocalcaemia, hyperphosphataemia and high parathormone levels.
Rupal V. Dosi, Annirudh P. Ambaliya, Harshal K. Joshi, Rushad D. Patell   +3 more
doaj   +1 more source