Results 61 to 70 of about 3,689 (193)

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   +1 more source

Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

open access: yesBMC Medical Genomics, 2022
Background SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.
Caiqi Du   +6 more
doaj   +1 more source

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis

open access: yesJournal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
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

Development of the neurohypophysis: A major neuroendocrine interface

open access: yesJournal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
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

Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism

open access: yesAnnals of Hepatology, 2007
Background: Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions.Methods: A retrospective review of the medical charts of eight infants with ...
Wikrom Karnsakul;   +5 more
doaj   +1 more source

Paediatric hypopituitarism: a case report and management challenges in a resource poor setting

open access: yesThe Pan African Medical Journal, 2020
Hypopituitarism, a deficiency of one or more of the hormones produced by the pituitary gland, is a rare disorder. It can be congenital or acquired. Case report on childhood hypopituitarism is rare in Nigeria. We present a 15-year-old boy, second of a set
Isaac Oludare Oluwayemi   +6 more
doaj   +1 more source

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
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

Evaluation of the Effect of IL‐1 Antagonists on Pituitary Function

open access: yesInternational Journal of Endocrinology, Volume 2026, Issue 1, 2026.
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

Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature

open access: yesRadiology Case Reports, 2018
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its ...
Atif Nawaz, MBBS, FCPS-I, FRCR-I   +2 more
doaj   +1 more source

Obstruction caused by suprasellar cisterna arachnoid cyst expansion after ventriculoperitoneal shunt in children with hydrocephalus

open access: yesPediatric Investigation, Volume 9, Issue 4, Page 405-409, December 2025.
This article focuses on four cases of hydrocephalus after ventriculoperitoneal (VP) shunt in our center from 2016 to 2021. Imaging follow‐up showed that the secondary suprasellar cisterna arachnoid cyst was enlarged and then formed obstructive hydrocephalus. The clinical symptoms were relieved after a suprasellar cisterna cyst stomy.
Dapeng Li, Wenping Ma, Ming Ge, Di Zhang
wiley   +1 more source

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