Results 31 to 40 of about 265,208 (194)

Genetic regulation of pituitary gland development in human and mouse [PDF]

open access: yes, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Robin Lovell-Badge   +9 more
core   +1 more source

Image_1_Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.tif

open access: yes, 2021
PurposeCongenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown.MethodsWe studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (NFSS)
Adrian G. Temnycky (11260872)   +14 more
core   +1 more source

A case of hypogonadtropic hypogonadism due to hypophysitis discovered by secondary male infertility

open access: yesIJU Case Reports, 2023
Introduction The main causes of secondary male infertility are varicocele and aging. It is rarely caused by adult‐onset hypopituitarism. The onset of hypopituitarism is often due to brain tumors, trauma, surgery, or congenital disorders.
Masatoshi Konishi   +8 more
doaj   +1 more source

Heterozygous defects in PAX6 gene and congenital hypopituitarism [PDF]

open access: yesEuropean Journal of Endocrinology, 2015
BackgroundThe prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH,de novochromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in ...
Masaki, Takagi   +9 more
openaire   +2 more sources

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

open access: yesPediatric Reports, 2011
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system.
Kuniko Takanashi   +8 more
doaj   +1 more source

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy [PDF]

open access: yes, 2022
Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadism ...
GÜRAN, TÜLAY
core   +3 more sources

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

open access: yesCells, 2022
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary
Amalia Sertedaki   +7 more
doaj   +1 more source

Abnormal cognitive function in treated congenital hypopituitarism [PDF]

open access: yesArchives of Disease in Childhood, 2004
To assess cognitive function in school age children with congenital pituitary hormone deficiency (PHD).Ten children with PHD (aged 6.0-15.6 years, mean 11.5 years) and sibling controls (aged 8.7-14.9 years, mean 12.1 years) were assessed using the Wechsler Intelligence Scale for Children (WISC-III UK).The patients' full scale IQ scores were all below ...
Brown K   +6 more
openaire   +3 more sources

Congenital hypopituitarism in children. Molecular-genetic characteristics

open access: yes, 2018
In connection with the ambiguity in the interpretation of the results of stimulation tests in congenital hypopituitarism, children need to search for molecular genetic markers of the disease.
E. A. Serebryakova   +7 more
core   +1 more source

A Case of Turner`s Syndrome with Transient Hypopituitarism [PDF]

open access: yes, 2007
Turner's syndrome is characterized by short stature and gonadal dysgenesis, and it is often associated with various systemic manifestations, such as cardiovascular, renal, thyroidal, gastrointestinal, and musculoskeletal disorders.
김혜진   +10 more
core   +1 more source

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