Results 31 to 40 of about 26,843 (264)

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review

open access: yesFrontiers in Endocrinology, 2023
BackgroundPituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS
Zhaoxiang Liu   +7 more
doaj   +1 more source

Multiple pituitary hormone deficiency: beware of combined hormones deficiency [PDF]

open access: yesInternational Journal of Pediatric Endocrinology, 2013
Multiple Pituitary Hormone Deficiency (MPHD) is an endocrine disorder due to combination of pituitary hormones deficiencies. Clinical manifestations vary due to the combination of individual hormone deficiencies. The diagnosis is established based on history, signs and symptoms, hormonal and radiological examination.
Rochmah, Nur   +3 more
openaire   +1 more source

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

open access: yesArchives of Endocrinology and Metabolism, 2023
Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH.
Tarık Kırkgöz   +7 more
doaj   +1 more source

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

open access: yesMolecular Genetics and Metabolism Reports, 2021
Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and ...
Wei-Yu Chen   +3 more
doaj   +1 more source

Patients with Ectopic Posterior Pituitary: Report of 6 Patients

open access: yesEndocrinology Research and Practice, 2021
Objective: Ectopic posterior pituitary (EPP) can occur because of a migration defect or neurodegeneration of the hypothalamic nuclei. EPP is typically rarely diagnosed. Therefore, we aimed to report our patients with EPP.
Hatice ÖZIŞIK   +4 more
doaj   +1 more source

Novel mutations associated with combined pituitary hormone deficiency [PDF]

open access: yesJournal of Molecular Endocrinology, 2011
The pituitary gland produces hormones that play important roles in both the development and the homeostasis of the body. A deficiency of two or several of these pituitary hormones, known as combined pituitary hormone deficiency, may present in infants or children due to an unknown etiology and is considered congenital or idiopathic. Advancements in our
Christopher J, Romero   +2 more
openaire   +2 more sources

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]

open access: yes, 2012
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan   +7 more
core   +1 more source

Idiopathic combined adrenocorticotropin and growth hormone deficiency mimicking chronic fatigue syndrome [PDF]

open access: yes, 2021
A 42-year-old man who had suffered from severe fatigue for 5 years was diagnosed as having chronic fatigue syndrome (CFS) and fibromyalgia. Endocrinological workup using combined anterior pituitary function tests showed that the patient had ...
Tokumasu, Kazuki   +2 more
core   +2 more sources

Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation

open access: yesFrontiers in Endocrinology, 2017
BackgroundHypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood.Case descriptionWe ...
Ludmila Brunerova   +5 more
doaj   +1 more source

Electrolyte Imbalance in Patients with Sheehan's Syndrome [PDF]

open access: yesEndocrinology and Metabolism, 2015
BackgroundWe investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome.MethodsIn a retrospective study, we investigated 78 patients with ...
Chur Hoan Lim   +7 more
doaj   +1 more source

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