Results 11 to 20 of about 3,553,850 (264)

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. [PDF]

open access: yesInt J Mol Sci, 2019
Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
Penta L   +6 more
europepmc   +10 more sources

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2017
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma.
Sang Soo Lee   +8 more
doaj   +4 more sources

Combined Pituitary Hormone Deficiency in lhx4-Knockout Zebrafish. [PDF]

open access: yesInt J Mol Sci
LIM homeobox 4 (LHX4) is a transcription factor crucial for anterior pituitary (AP) development. Patients with LHX4 mutation suffer from combined pituitary hormone deficiency (CPHD), short statures, reproductive and metabolic disorders and lethality in some cases. Lhx4-knockout (KO) mice fail to develop a normal AP and die shortly after birth. Here, we
Roisman-Geller N   +5 more
europepmc   +4 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]

open access: yesInt J Mol Sci, 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
Smyczyńska J   +3 more
europepmc   +3 more sources

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

open access: yesJournal 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   +6 more
doaj   +2 more sources

Genetic causes of isolated and combined pituitary hormone deficiency

open access: yesBest Practice & Research Clinical Endocrinology & Metabolism, 2016
Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance.
GIORDANO, Mara
openaire   +5 more sources

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

open access: yesInt 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   +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]

open access: yesAnnals of Pediatric Endocrinology & Metabolism
Purpose To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Yoonha Lee   +4 more
doaj   +2 more sources

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

open access: yesKlinische Pädiatrie, 2023
Abstract Aim We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the ...
Özge Besci   +9 more
core   +6 more sources

"Hot Spot" in the PROP1 Gene Responsible for Combined Pituitary Hormone Deficiency

open access: yesJournal of Clinical Endocrinology & Metabolism, 1999
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). Although pit-1 was 1 of the first factors identified as a cause of CPHD in mice, many other homeodomain and transcription factors have ...
Deladoëy, Johnny   +7 more
openaire   +5 more sources

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