Central adrenal insufficiency in children and adolescents

G Patti, C Guzzeti, N Di Iorgi, AEM Allegri… - Best practice & research …, 2018 - Elsevier
Central adrenal insufficiency (CAI) is a life-threatening condition caused by either pituitary
disease (secondary adrenal insufficiency) or impaired hypothalamic function with …

[HTML][HTML] Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

FA Correa, M Nakaguma, JLO Madeira… - … of Endocrinology and …, 2019 - SciELO Brasil
The first description of patients with combined pituitary hormone deficiencies (CPHD)
caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and …

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics, C Smith, H Bando, AAL Jorge… - The American Journal of …, 2021 - cell.com
Pituitary hormone deficiency occurs in∼ 1: 4,000 live births. Approximately 3% of the cases
are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional …

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

AM Almatrafi, AM Hibshi, S Basit - Medicina, 2023 - mdpi.com
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare
heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and …

Common and uncommon mouse models of growth hormone deficiency

EO List, R Basu, DE Berryman, S Duran-Ortiz… - Endocrine …, 2024 - academic.oup.com
Mouse models of growth hormone deficiency (GHD) have provided important tools for
uncovering the various actions of GH. Nearly 100 years of research using these mouse lines …

Etiology of hypopituitarism in adult patients: the experience of a single center database in the Serbian population

M Doknić, S Pekić, D Miljić, I Soldatović… - International Journal …, 2017 - Wiley Online Library
There are only a few published studies related to the population‐based etiology of
hypopituitarism. New risks for developing hypopituitarism have been recognized in the last …

A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression

S Suzuki, K Matsuo, Y Ito, A Kobayashi… - European Journal of …, 2021 - academic.oup.com
Background POU1F1 encodes both PIT-1α, which plays pivotal roles in pituitary
development and GH, PRL and TSHB expression, and the alternatively spliced isoform PIT …

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

S Jadhav, C Diwaker, AR Lila, JV Gada, S Kale… - Pituitary, 2021 - Springer
Context POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype–phenotype
correlation is not well-studied. Aim To describe phenotypic and genotypic spectrum of …

Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an …

S Kale, JV Gada, S Jadhav, AR Lila, V Sarathi… - Pituitary, 2020 - Springer
Context Regional variation in prevalence of genetic mutations in growth hormone deficiency
(GHD) is known. Aim Study phenotype and prevalence of mutations in GH1, GHRHR …

Nitric oxide mediates apoptosis and mitochondrial dysfunction and plays a role in growth hormone deficiency by nivalenol in GH3 cells

D Huang, L Cui, P Guo, X Xue, Q Wu, HI Hussain… - Scientific Reports, 2017 - nature.com
Nivalenol (NIV), a type B trichothecenes commonly found in cereal crops, can cause growth
impairment in animals. However, limited information about its mechanisms is available …