Results 41 to 50 of about 3,553,850 (264)
Combined pituitary hormone deficiency - lessons from the murine models [PDF]
European Journal of Endocrinology, 1999 The molecular pathogenesis of some forms of combined pituitary hormone deficiency (CPHD, impaired production of growth hormone (GH) and one or more of the other five pituitary hormones) was established with the discovery of mutations in the pituitary transcription factor, POU1F1 (the human homologue of mouse Pit1) several years ago (1).
B B, Yeap, P J, Leedman
openaire +2 more sources
Intracranial germinoma combined with parathyroid adenoma in a male pediatric patient: A case report
SAGE Open Medical Case Reports, 2023 Cases of young patients combined with intracranial germinoma and parathyroid adenoma are extremely rare. A 6.25-year-old boy was diagnosed with growth hormone deficiency at his first visit and was then treated with growth hormone substitution.
Tingting Zhang +4 more
doaj +1 more source
Normal Growth despite Combined Pituitary Hormone Deficiency
Hormone Research in Paediatrics, 2019 Background: The paradox of normal growth despite a lack of growth hormone (GH) is an unexplained phenomenon described in some pathological (sellar, suprasellar, and hypothalamic disorders) and overgrowth syndromes. It has been suggested that the paradoxical growth is due to other GH variants, GH-like moieties, prolactin, insulin, insulin-like growth ...
El Kholy, Mohamed +11 more
openaire +4 more sources
Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study [PDF]
, 2008 Hypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling ...
Graaff, L.C.G. (Laura) de +1 more
core +1 more source
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. [PDF]
Endocr Rev, 2016 The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning.
Fang Q +13 more
europepmc +4 more sources
Frontiers in Endocrinology, 2020 Background/Purpose: A prolactinoma is the most common pituitary adenoma, but it is relatively rare in childhood and adolescence. There is only limited research about the clinical spectrum, treatment, and outcomes of prolactinomas in childhood and ...
Aram Yang +6 more
doaj +1 more source
Frontiers in Endocrinology, 2022 Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available.
Hironori Bando +10 more
doaj +1 more source
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
, 2003 We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A→T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency.
Cheetham TD +7 more
core +6 more sources
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
, 2020 Objectives: Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS).
BÖBER, ECE +13 more
core +1 more source
CROSS-TALK BETWEEN ENDOCRINE SYSTEM AND OTHER BIOLOGICAL PATHWAYS: PHYSIOLOGICAL AND PATHOLOGICAL IMPLICATIONS IN PAEDIATRIC ENDOCRINOPATHIES [PDF]
, 2009 Endocrine system exerts relevant effects on multiple organs and tissues. Pleiotropic and redundant functions of circulating hormones are due to the various receptors expressed on multiple target cells.
Capalbo, Donatella
core +1 more source