Pituitary gland development and disease: from stem cell to hormone production

SW Davis, BS Ellsworth, MIP Millan, P Gergics… - Current topics in …, 2013 - Elsevier
Many aspects of pituitary development have become better understood in the past two
decades. The signaling pathways regulating pituitary growth and shape have emerged, and …

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 …

A journey through the pituitary gland: Development, structure and function, with emphasis on embryo-foetal and later development

G Musumeci, S Castorina, P Castrogiovanni, C Loreto… - Acta histochemica, 2015 - Elsevier
The pituitary gland and the hypothalamus are morphologically and functionally associated in
the endocrine and neuroendocrine control of other endocrine glands. They therefore play a …

Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development

T Arrigo, M Wasniewska, F De Luca… - Journal of …, 2006 - Springer
Anterior pituitary agenesis (APA) has very rarely been reported. Therefore, its phenotypical
and genotypical features are not well known. The aim of this study was to ascertain whether …

The developmental program of the hypothalamus and its disorders

JL Michaud - Clinical genetics, 2001 - Wiley Online Library
The hypothalamus integrates physiological processes essential for survival and
reproduction. Recent studies have shown that developmental events can affect these …

Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis

E Fernandez-Rodriguez, C Quinteiro, J Barreiro… - …, 2011 - karger.com
Objectives: To investigate the prevalence of pituitary stalk dysgenesis (PSD) in adult
hypopituitary patients by describing the chronology of hormone deficiencies and their …

PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of …

LCG De Graaff, J Argente, DCM Veenma… - Hormone research in …, 2010 - karger.com
Abstract Background/Aims: Mutation frequencies of genes involved in combined pituitary
hormone deficiency (CPHD) vary substantially between populations. The HYPOPIT study …

Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR …

SS Kim, Y Kim, YL Shin, GH Kim, TU Kim, HW Yoo - Hormone research, 2003 - karger.com
Background/Aims: Many genes encoding pituitary transcription factors involved in the
formation of the pituitary gland are identified. Different mutations in these genes have been …

“Hot spot” in the PROP1 gene responsible for combined pituitary hormone deficiency

J Deladoëy, C Flück… - The Journal of …, 1999 - academic.oup.com
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in
the development and organogenesis of this gland may account for a form of combined …

Mechanisms in endocrinology: an update in the genetic aetiologies of combined pituitary hormone deficiency

F Castinetti, R Reynaud, A Saveanu… - European Journal of …, 2016 - academic.oup.com
Over the last 5 years, new actors involved in the pathogenesis of combined pituitary
hormone deficiency in humans have been reported: they included a member of the …