Results 11 to 20 of about 26,843 (264)

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency. [PDF]

Int J Mol Sci, 2020
Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary
Budny B, Karmelita-Katulska K, Stajgis M, Żemojtel T, Ruchała M, Ziemnicka K.   +5 more
europepmc   +5 more sources

Identification of <i>POU1F1</i> Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency. [PDF]

Int J Mol Sci
Hypopituitarism is a condition characterized by the deficiency of several hormones produced by the pituitary gland. Genetic factors play an important role. Variants in the POU1F1 gene are associated with combined pituitary hormone deficiency 1 (CPHD1), which manifests as deficiencies in growth hormone (GH), thyroid-stimulating hormone (TSH), and ...
Nguyen HT, Nguyen KN, Dien TM, Can TBN, Nguyen TTN, Lien NTK, Tung NV, Xuan NT, Tao NT, Nguyen NL, Tran VK, Mai TTC, Tran VA, Nguyen HH, Vu CD.   +14 more
europepmc   +4 more sources

Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study. [PDF]

Ann Pediatr Endocrinol Metab
Purpose To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Lee Y, Lee YA, Ko JM, Shin CH, Lee YJ.
europepmc   +3 more sources

Delayed Diagnosis of Congenital Combined Pituitary Hormone Deficiency including Severe Growth Hormone Deficiency in Children with Persistent Neonatal Hypoglycemia—Case Reports and Review [PDF]

International Journal of Molecular Sciences, 2022
Apart from stimulation of human growth and cell proliferation, growth hormone (GH) has pleiotropic metabolic effects in all periods of life. Severe GH deficiency is a common component of combined pituitary hormone deficiency (CPHD). CPHD may be caused by
Joanna Smyczynska, Natalia Pawelak, Maciej Hilczer   +2 more
exaly   +3 more sources

Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark—A National Observational Study [PDF]

Journal of Clinical Endocrinology and Metabolism, 2023
Context: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic factors or malformation.Objective: We aimed to estimate the national incidence of cCPHD diagnosed before age 18 years and in ...
Rikke Beck Jensen, Niels Holtum Birkebæk, Henrik Thybo Christesen   +2 more
exaly   +3 more sources

Personality traits and sex-role schema in adult patients with childhood-onset combined pituitary hormone deficiency not treated with growth hormone

Journal of Medical Science, 2017
Background. Patients with combined pituitary hormone deficiency have quantitative and qualitative abnormalities of pituitary hormone production that may trigger psychological consequences. Several studies have evidenced symptoms of social disturbances in
Izabela Warmuz-Stangierska, Monika Gołąb, Adam Stangierski, Katarzyna Piątek, Natalie Musial, Marek Ruchała, Katarzyna Ziemnicka   +6 more
doaj   +3 more sources

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report. [PDF]

BMC Endocr Disord, 2023
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Obata Y, Takayama K, Nishikubo H, Tobimatsu A, Matsuda I, Uehara Y, Maruo Y, Sho H, Kosugi M, Yasuda T.   +9 more
europepmc   +2 more sources

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency [PDF]

J Clin Res Pediatr Endocrinol, 2020
Objective:Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD).
Bulut FD, Özdemir Dilek S, Kotan D, Mengen E, Gürbüz F, Yüksel B.   +5 more
europepmc   +2 more sources

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

Arch Endocrinol Metab, 2019
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 genetic characteristics of patients with PROP1 mutations and summarized the phenotypes
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB.   +8 more
europepmc   +2 more sources

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene. [PDF]

Endocr Connect
Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort.
Plachy L, Dusatkova P, Maratova K, Amaratunga SA, Zemkova D, Neuman V, Kolouskova S, Obermannova B, Snajderova M, Sumnik Z, Lebl J, Pruhova S.   +11 more
europepmc   +2 more sources