Results 21 to 30 of about 2,322 (168)

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

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

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

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

Transient Pseudohypoparathyroidism as a Cause of Late-onset Hypocalcemia in Neonates and Infants

Journal of the Formosan Medical Association, 2008
Transient pseudohypoparathyroidism is a rare cause of late-onset hypocalcemia in neonates and infants. The purpose of this study was to investigate the clinical presentation and natural course of transient pseudohypoparathyroidism in neonates and infants.
Cheng-Ting Lee, Wen-Yu Tsai, Yi-Ching Tung, Yong-Kwei Tsau   +3 more
doaj   +1 more source

Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey

Journal of Epidemiology, 2023
Background: Pseudohypoparathyroidism (PHP) and nonsurgical hypoparathyroidism (NS-HypoPT) are rare diseases with hypocalcemia, hyperphosphatemia, and high and low parathyroid hormone levels, respectively.
Rieko Takatani, Takuo Kubota, Masanori Minagawa, Daisuke Inoue, Seiji Fukumoto, Keiichi Ozono, Yosikazu Nakamura   +6 more
doaj   +1 more source

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

JCRPE, 2022
Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes.
Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen,, Preamrudee Poomthavorn   +4 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  

Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a

Case Reports in Endocrinology, 2018
Introduction. Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright’s hereditary osteodystrophy ...
Adelaide Moutinho, Rosa Carvalho, Rita Ferreira Reis, Sandra Tavares   +3 more
doaj   +1 more source

Management of Pseudohypoparathyroidism Type 1a during Pregnancy and Labor: A Case Report

Case Reports in Obstetrics and Gynecology, 2012
Pseudohypoparathyroidism is rare during pregnancy and poses multiple challenges related to its diagnosis and management during pregnancy. We hereby report a case of a young woman who was diagnosed to have type 1a pseudohypoparathyroidism. She was managed
Anju Singh, Neelam Agarwal, Seema Chopra, Pooja Sikka, Vanita Suri, Bhupesh Kumar, Pinaki Dutta   +6 more
doaj   +1 more source