Results 51 to 60 of about 3,484 (175)
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte +5 more
wiley +1 more source
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Yoshinari Obata +9 more
doaj +1 more source
Development of the neurohypophysis: A major neuroendocrine interface
Abstract The neurohypophysis is a major central neuroendocrine interface regulating reproductive functions and water homeostasis. Distinct neurovascular cell types interact via evolutionarily conserved signaling molecules in the developing neurohypophysis, providing a model system for studying principles in neuroendocrine interface morphogenesis.
Athul R. Ramesh +5 more
wiley +1 more source
Cholestasis in the neonatal period requires a prompt and thorough evaluation. Panhypopituitarism is an uncommon but known cause of cholestasis. Here we present a rare and late complication of liver disease secondary to congenital hypopituitarism ...
Shawn A. Haupt +10 more
doaj +1 more source
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul +5 more
wiley +1 more source
Fertility induction associated with improved peripheral reproductive parameters in male Prop1df/dfmice subjected to GH and levothyroxine replacement [PDF]
Objective: The aim of this study was to characterize the parameters of reproductive anatomy and pituitary hormone expression levels in ames dwarf mice (Prop1df/df).
Bruna Viscardi Azevedo +7 more
doaj +1 more source
Prevention of neuromusculoskeletal frailty in slow-aging ames dwarf mice: longitudinal investigation of interaction of longevity genes and caloric restriction. [PDF]
Ames dwarf (Prop1 (df/df) ) mice are remarkably long-lived and exhibit many characteristics of delayed aging and extended healthspan. Caloric restriction (CR) has similar effects on healthspan and lifespan, and causes an extension of longevity in Ames ...
Oge Arum +3 more
doaj +1 more source
Diagnostic pitfalls in the assessment of congenital hypopituitarism
The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment.We analyzed a cohort of five children with congenital ...
Cavarzere, P +7 more
openaire +2 more sources
Evaluation of the Effect of IL‐1 Antagonists on Pituitary Function
Background Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease frequently observed in populations along the Eastern Mediterranean coast, characterized by recurrent fever, abdominal pain, and joint inflammation. The disease results from mutations in the MEFV gene, which plays a critical role in regulating IL‐1β secretion ...
Fadime Aktas Koc +3 more
wiley +1 more source
Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism. [PDF]
Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function.
James Hughes +5 more
doaj +1 more source

