Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
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 …

Mechanisms in endocrinology: novel genetic causes of short stature

JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline

ME Molitch, DR Clemmons… - The Journal of …, 2011 - academic.oup.com
Objective: The aim was to update The Endocrine Society Clinical Practice Guideline on
Evaluation and Treatment of Adult Growth Hormone Deficiency (GHD) previously published …

Genetics of primary congenital hypothyroidism—a review

E Kostopoulou, K Miliordos, B Spiliotis - Hormones, 2021 - Springer
Purpose Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …

Recent advances in central congenital hypothyroidism

N Schoenmakers, KS Alatzoglou… - Journal of …, 2015 - joe.bioscientifica.com
Obesity is an escalating epidemic, but an effective noninvasive therapy is still scarce. For
obesity treatment, anorexigenic neuropeptides are promising tools, but their delivery from …

Isolated anterior pituitary dysfunction in adulthood

N Prencipe, L Marinelli, E Varaldo, D Cuboni… - Frontiers in …, 2023 - frontiersin.org
Hypopituitarism is defined as a complete or partial deficiency in one or more pituitary
hormones. Anterior hypopituitarism includes secondary adrenal insufficiency, central …

Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

MJ McCabe, C Gaston-Massuet… - The Journal of …, 2011 - academic.oup.com
Context: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with
human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in …

Congenital hypopituitarism during the neonatal period: epidemiology, pathogenesis, therapeutic options, and outcome

L Bosch i Ara, H Katugampola, MT Dattani - Frontiers in pediatrics, 2021 - frontiersin.org
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 …

Pediatric adrenal insufficiency: challenges and solutions

D Nisticò, B Bossini, S Benvenuto… - … and clinical risk …, 2022 - Taylor & Francis
Adrenal insufficiency is an insidious diagnosis that can be initially misdiagnosed as other life-
threatening endocrine conditions, as well as sepsis, metabolic disorders, or cardiovascular …

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

R Matsumoto, H Suga, T Aoi, H Bando… - The Journal of …, 2020 - Am Soc Clin Investig
Pituitary develops from oral ectoderm in contact with adjacent ventral hypothalamus.
Impairment in this process results in congenital pituitary hypoplasia (CPH); however, there …