Results 21 to 30 of about 2,981 (206)

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature

Archives of Endocrinology and Metabolism, 2020
SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus ...
José Diogo Ramalho e Silva, Gustavo Filipe Melo Alves da Rocha, Maria João Martins Oliveira   +2 more
doaj   +1 more source

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

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

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

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

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

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Endocrine Connections, 2022
Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is ...
Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura   +14 more
doaj   +1 more source

Syndrome Fahr: Neurologic manifestation of endocrine disease [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2020
Syndrome Fahr is described as calcification of the basal ganglia and is a rare inherited or sporadic neurological disease with a prevalence of 1:1000000 (1). For the first time described in 1930 in the works of Dr.
Miletić Marija, Stojanović Miloš, Nedeljković-Beleslin Biljana, Stojković Mirjana, Ćirić Jasmina, Žarković Miloš   +5 more
doaj  

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

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