Results 31 to 40 of about 3,689 (193)

A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1. [PDF]

J Endocr Soc, 2017
Thakur M, Taha D, Misra VK.
europepmc   +3 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 ...
Sarah Castets, Cécile Thomas‐Teinturier, Carine Villanueva, Jessica Amsellem, Pascal Barat, Gilles Brun, E. Bui Quoc, Jean‐Claude Carel, Gianpaolo De Filippo, Clara Kipnis, Laëtitia Martinerie, Julia Vergier, Alexandru Saveanu, N. Teissier, R. Coutant, Juliane Léger, Rachel Reynaud   +16 more
openalex   +4 more sources

7704 Generating pituitary cells from iPSCs of patients with child onset congenital hypopituitarism harboring PROP1 pathogenic allelic variants [PDF]

J Endocr Soc
Juliana Moreira Marques, Faranak Fattahi, Luciani R. Carvalho   +2 more
europepmc   +3 more sources

Congenital Hypopituitarism: Current Agnostic Genetics Faces Its Limits [PDF]

The Journal of Clinical Endocrinology & Metabolism
Pierre Bougnères
openalex   +3 more sources

Left Ventricular Rotational Abnormalities in Treated Hypopituitarism: Insights From the Three-Dimensional Speckle-Tracking Echocardiographic MAGYAR-Path Study

Frontiers in Cardiovascular Medicine, 2021
Introduction: Hypopituitarism is a rare, often underdiagnosed, complex hormonal disease caused by the decreased secretion of one or more hormones in the pituitary gland.
Árpád Kormányos, Nándor Gyenes, Ágnes Horváth, Nóra Ambrus, Csaba Lengyel, Zsuzsanna Valkusz, Attila Nemes   +6 more
doaj   +1 more source

SAT-022 A targeted hypopituitarism gene panel in patients with variable congenital hypopituitarism identifies variants in known and novel candidate genes with evidence of oligogenicity. [PDF]

J Endocr Soc
Louise Gregory, Mehul Dattani
europepmc   +3 more sources

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Endocrine Connections, 2023
Context: Congenital hypopituitarism is a genetically heterogeneous cond ition. Whole exome sequencing (WES) is a promising approach for molecular di agnosis of patients with this condition.
Nathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, Renata Kertsz, Juliana M Marques, Nicholas S S Trigueiro, Anna Flavia Figueredo Benedetti, Bruna V Azevedo, Bianca H V Fernandes, Debora D Bissegatto, Isabela P Biscotto, Qing Fang, Qianyi Ma, Asye B Ozel, Jun Li, Sally A Camper, Alexander A L Jorge, Berenice B Mendonça, Ivo J P Arnhold, Luciani R Carvalho   +19 more
doaj   +1 more source

SUN-577 Effect of Growth Hormone Replacement on Metabolic Profile and Vascular System in Adult Patients with Congenital Hypopituitarism [PDF]

J Endocr Soc, 2020
Biscotto I, Hong V, Bortolotto L, Carvalho L.   +3 more
europepmc   +2 more sources

Pituitary Stalk Interruption Syndrome: A Case Report

Turkish Journal of Internal Medicine, 2021
Panhypopituitarism occurs as a result of the insufficiency of all hormones produced in the anterior pituitary gland. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital syndrome leading to hypopituitarism.
Yasemin Aydoğan Ünsal, Ensar Aydemir, Merve Nur Akyol, Coşkun Ateş, Soner Cander, Özen Öz Gül, Erdinç Ertürk, Canan Ersoy   +7 more
doaj   +1 more source

Congenital Hypopituitarism: Various Genes, Various Phenotypes [PDF]

Hormone and Metabolic Research, 2019
AbstractThe ontogenesis and development of the pituitary gland is a highly complex process that depends on a cascade of transcription factors and signaling molecules. Spontaneous mutations and transgenic murine models have demonstrated a role for many of these factors, including HESX1, PROP1, PIT1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, SHH, GLI2 ...
Xatzipsalti, M., Voutetakis, A., Stamoyannou, L., Chrousos, G.P., Kanaka-Gantenbein, C.   +4 more
openaire   +3 more sources