An Orthodenticle Homeobox 2 (OTX2) Mutation in a Patient With Combined Pituitary Hormone Deficiency, Pituitary Malformation, and Retinitis Pigmentosa.
Cureus. 2023.
PMID: 38249203
Free PMC article.
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found by citation matching
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
J Clin Endocrinol Metab. 1998.
PMID: 9745452
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.
BMC Endocr Disord. 2013.
PMID: 24289245
Free PMC article.
Search results
Page 1
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Arch Endocrinol Metab. 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139.
Arch Endocrinol Metab. 2019.
PMID: 31090814
Free PMC article.
Review.
The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. ...PROP1 mutations are the most common cause of autosomal recessive CPHD with a topic posterior pituitary lobe …
The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations …
Growth Hormone Deficiency: Health and Longevity.
Endocr Rev. 2019 Apr 1;40(2):575-601. doi: 10.1210/er.2018-00216.
Endocr Rev. 2019.
PMID: 30576428
Free PMC article.
Review.
The important role of GH in the control of mammalian longevity was first deduced from extended longevity of mice with genetic GH deficiency (GHD) or GH resistance. Mice with isolated GHD (IGHD) due to GHRH or GHRH receptor mutations, combined deficiency of GH …
The important role of GH in the control of mammalian longevity was first deduced from extended longevity of mice with genetic GH deficien …
Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark-A National Observational Study.
J Clin Endocrinol Metab. 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198.
J Clin Endocrinol Metab. 2023.
PMID: 37043518
Free PMC article.
CONTEXT: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of 2 pituitary hormones caused by congenital factors. ...CONCLUSION: cCPHD had the highest incidence rate and the most hormone deficiencies …
CONTEXT: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of 2 pituitary ho …
Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation.
J Clin Endocrinol Metab. 2019 Jul 1;104(7):2851-2854. doi: 10.1210/jc.2019-00081.
J Clin Endocrinol Metab. 2019.
PMID: 30888394
CONTEXT: Mutations in the HESX1 gene can give rise to complex phenotypes that involve variable pituitary hormone deficiencies and other developmental defects. CASE DESCRIPTION: A 14-year-old boy presented with short stature and delayed puberty and received a …
CONTEXT: Mutations in the HESX1 gene can give rise to complex phenotypes that involve variable pituitary hormone deficienci …
Overt and subclinical hypothyroidism: who to treat and how.
Drugs. 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000.
Drugs. 2012.
PMID: 22191793
Review.
Hypothyroidism denotes deficient production of thyroid hormone by the thyroid gland and can be primary (abnormality in thyroid gland itself) or secondary/central (as a result of hypothalamic or pituitary disease). ...Limited evidence suggests that treatment o …
Hypothyroidism denotes deficient production of thyroid hormone by the thyroid gland and can be primary (abnormality in thyroid …
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Clin Endocrinol (Oxf). 2005 Aug;63(2):121-30. doi: 10.1111/j.1365-2265.2005.02289.x.
Clin Endocrinol (Oxf). 2005.
PMID: 16060904
Review.
The past 12 years have witnessed an explosion in our understanding of the development of the anterior pituitary gland, and of mechanisms that underlie the diagnosis of growth hormone deficiency (GHD) and combined pituitary hormone defi …
The past 12 years have witnessed an explosion in our understanding of the development of the anterior pituitary gland, and of mechani …
Clinico-radiological correlation of pituitary stalk interruption syndrome in children with growth hormone deficiency.
Pituitary. 2023 Oct;26(5):622-628. doi: 10.1007/s11102-023-01351-2. Epub 2023 Sep 11.
Pituitary. 2023.
PMID: 37695468
PURPOSE: To analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD). ...RESULTS: Among 57 children with GHD, 14 (24%) were diagnosed as PSIS. The mean ag …
PURPOSE: To analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in child …
Hypopituitarism.
Lancet. 2007 Apr 28;369(9571):1461-1470. doi: 10.1016/S0140-6736(07)60673-4.
Lancet. 2007.
PMID: 17467517
Review.
Incidence and prevalence of hypopituitarism are estimated to be 4.2 per 100,000 per year and 45.5 per 100,000, respectively. Although the clinical symptoms of this disorder are usually unspecific, it can cause life-threatening events and lead to increased mortality. Curren …
Incidence and prevalence of hypopituitarism are estimated to be 4.2 per 100,000 per year and 45.5 per 100,000, respectively. Although …
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency.
J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):261-268. doi: 10.4274/jcrpe.galenos.2020.2019.0191. Epub 2020 Jan 17.
J Clin Res Pediatr Endocrinol. 2020.
PMID: 31948187
Free PMC article.
OBJECTIVE: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). ...METHODS: Fifty-seven CPHD patient …
OBJECTIVE: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiati …
An Orthodenticle Homeobox 2 (OTX2) Mutation in a Patient With Combined Pituitary Hormone Deficiency, Pituitary Malformation, and Retinitis Pigmentosa.
Cureus. 2023 Dec 20;15(12):e50819. doi: 10.7759/cureus.50819. eCollection 2023 Dec.
Cureus. 2023.
PMID: 38249203
Free PMC article.
Heterozygous mutations of orthodenticle homeobox 2 (OTX2)can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to combined pituitary hormone deficie …
Heterozygous mutations of orthodenticle homeobox 2 (OTX2)can result in ocular malformations, pituitary abnormalities, or hypop …
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