Results 21 to 30 of about 5,557 (240)

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency : A single center experience from over 30 years [PDF]

EClinicalMedicine, 2022
Publisher Copyright: © 2022 The AuthorsBackground: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies
Almusa, Henrikki, Hero, Matti, Hietamäki, Johanna, Huopio, Hanna, Iivonen, Anna Pauliina, Kärkinen, Juho, Miettinen, Päivi J., Raivio, Taneli, Tarkkanen, Annika, Vaaralahti, Kirsi   +9 more
core   +3 more sources

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for x linked hypopituitarism [PDF]

PLoS Genetics, 2013
Extent: 9 p.Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function ...
A Albrecht, A Calado, AN Albrecht, AR La Spada, C Shoubridge, Dale McAninch, E De Baere, E Roessler, EM Burkitt Wright, F Laumonnier, IM Nasrallah, J Wong, James Hughes, JW Innis, K Kitamura, K Rizzoti, KS Alatzoglou, KS Woods, Lynn Rowley, MG Price, MM Laronda, N Brison, Nicholas Rogers, Paul Thomas, QL Ying, Sally Camper, Sandra Piltz, SW Davies, T Wataya, V Dubreuil   +29 more
core   +5 more sources

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature. [PDF]

Mol Genet Metab Rep, 2021
Chen WY, Niu DM, Chen LZ, Yang CF.
europepmc   +2 more sources

Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature. [PDF]

Pituitary, 2021
Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.   +8 more
europepmc   +3 more sources

Congenital hypopituitarism in familial Turner syndrome cases caused by a highly prevalent PROP1 gene mutation in Tunisia

Endocrine and Metabolic Science
Background: Turner syndrome (TS) is a genetic disorder found only in females who are completely or partially missing an X chromosome. It is rarely inherited from parent to offspring and is not reported to be associated with any causal gene.
Hassen Hadj Kacem, Mariam Moalla, Faten Hadj Kacem, Oumeyma Trimeche, Wajdi Safi, Mouna Mnif-Feki, Mohamed Abid   +6 more
doaj   +2 more sources

Diagnosis and management of congenital hypopituitarism in children

Archives de Pédiatrie
Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle ...
Castets, Sarah, Vergier, Julia, Reynaud, Rachel, Thomas-Teinturier, Cécile, Villanueva, Carine, Amsellem, Jessica, Coutant, Régis, Barat, Pascal, Brun, Gilles, Quoc, Emmanuel Bui, Carel, Jean Claude, de Filippo, Gian Paolo, Kipnis, Clara, Martinerie, Laetitia, Léger, Juliane, Saveanu, Alexandru, Teissier, Natacha   +16 more
openaire   +3 more sources

Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism. [PDF]

BMJ Case Rep, 2022
Kwan R, Vasanwala RF, Baral VR.
europepmc   +2 more sources

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome. [PDF]

Ital J Pediatr, 2022
Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and ...
Serra G, Giambrone C, Antona V, Cardella F, Carta M, Cimador M, Corsello G, Giuffrè M, Insinga V, Maggio MC, Pensabene M, Schierz IAM, Piro E.   +12 more
europepmc   +2 more sources

NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. [PDF]

Int J Endocrinol, 2020
Wang CZ, Guo LL, Guo QH, Mu YM.
europepmc   +3 more sources

FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours. [PDF]

Pituitary
Orsmond A, Krishnan G, Palmer LJ, De Sousa SMC, McCormack A.   +4 more
europepmc   +2 more sources