Results 21 to 30 of about 26,843 (264)

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. [PDF]

Endocr Rev, 2016
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning.
Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA.   +13 more
europepmc   +4 more sources

Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK. [PDF]

Eur Thyroid J
Objective: Central congenital hypothyroidism (incidence ∼1:13,000) occurs in isolation (40% cases) or with additional pituitary hormone deficiencies. T4 ± TSH-based neonatal screening detects central congenital hypothyroidism within the first two weeks ...
Peters C, Wood C, Law JM, Stevens C, Alhusaini F, Rigby D, Hornby H, Cheetham T, Schoenmakers N.   +8 more
europepmc   +2 more sources

Cognitive function in patients with childhood-onset combined pituitary hormone deficiency not treated with growth hormone

Journal of Medical Science, 2016
Introduction. Growth hormone deficiency is a known factor leading to impairment of psychological performance but there are very few studies on cognitive function in adult patients with childhood-onset combined pituitary hormone deficiency (ChO-CPHD ...
Izabela Warmuz-Stangierska, Monika Gołąb, Adam Stangierski, Małgorzata Kałużna, Elvira Rak, Tamara Nowocień, Marek Ruchała, Katarzyna Ziemnicka   +7 more
doaj   +3 more sources

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency [PDF]

Clinical Endocrinology, 2006
SummaryObjective  Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD.Design, patients and measurements  A multicentric study involving ...
Lemos, MC, Gomes, L, Bastos, M, Leite, V, Limbert, E, Carvalho, D, Bacelar, C, Monteiro, M, Fonseca, F, Agapito, A, Castro, JJ, Regateiro, F, Carvalheiro, M   +12 more
openaire   +5 more sources

Association between serum prolactin and anterior pituitary dysfunction in pituitary stalk interruption syndrome: a retrospective study of 155 patients from a large tertiary medical center in China. [PDF]

BMC Endocr Disord
Background Pituitary stalk interruption syndrome (PSIS) is a rare hypothalamic-pituitary disorder causing progressive anterior pituitary deficiency. Subtle early symptoms and unreliable sex hormone levels in prepubertal patients complicate diagnosis of ...
Fu L, Xiao Y, Jiang D, Ye L, Mu Y, Lyu Z, Guo Q.   +6 more
europepmc   +2 more sources

Heart Rate Variability in Postoperative Patients with Nonfunctioning Pituitary Adenoma [PDF]

Endocrinology and Metabolism, 2021
Background Decreased heart rate variability (HRV) has been reported to be associated with cardiac autonomic dysfunction. Hypopituitarism in nonfunctioning pituitary adenoma (NFPA) is often linked to increased cardiovascular mortality.
Jeonghoon Ha, Hansang Baek, Chaiho Jeong, Minsoo Yeo, Seung-Hwan Lee, Jae Hyoung Cho, Ki-Hyun Baek, Moo Il Kang, Dong-Jun Lim   +8 more
doaj   +1 more source

Combined pituitary hormone deficiency with a novel GLI2 frameshift variant. [PDF]

Pediatr Int
Matsuo Y, Adachi N, Mukai T, Kato S, Kato M, Tanaka H.   +5 more
europepmc   +3 more sources

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

Archives of Endocrinology and Metabolism, 2022
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T).
Julia Haddad Labello, Anna Flávia Figueredo Benedetti, Bruna Viscardi Azevedo, Alexander Augusto de Lima Jorge, Valter Angelo Sperling Cescato, Sergio Rosemberg, Fernando Pereira Frasseto, Ivo Jorge Prado Arnhold, Luciani Renata Silveira de Carvalho   +8 more
doaj   +1 more source

Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome

Frontiers in Pediatrics, 2021
Introduction: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and reproduction.
Laura Bosch i Ara, Harshini Katugampola, Mehul T. Dattani, Mehul T. Dattani   +3 more
doaj   +1 more source

Molecular Basis of Combined Pituitary Hormone Deficiencies [PDF]

Endocrine Reviews, 2002
Pituitary gland commitment from oral ectoderm occurs in response to inductive signals from the neuroepithelium of the ventral diencephalon. Invagination of the oral ectoderm leads to the creation of Rathke's pouch. Intensified cell proliferation within Rathke's pouch results in formation of the anterior pituitary lobe.
Laurie E, Cohen, Sally, Radovick
openaire   +2 more sources