Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

R Pfäffle, J Klammt - Best practice & research Clinical endocrinology & …, 2011 - Elsevier
The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its
major components–growth hormone–is produced by the anterior lobe of the pituitary, which …

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development

ML Sobrier, T Attie-Bitach, I Netchine… - Gene Expression …, 2004 - Elsevier
The pathophysiology of combined pituitary hormone deficiency (CPHD) is just beginning to
be elucidated, with mutations in genes encoding transcription factors expressed at different …

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

N Jullien, P Romanet, M Philippon… - European Journal of …, 2019 - nature.com
LHX3 is an LIM domain transcription factor involved in the early steps of pituitary
ontogenesis. We report here functional studies of three allelic variants, including the first …

Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single …

S Dateki, M Fukami, A Uematsu, M Kaji… - The Journal of …, 2010 - academic.oup.com
Context: Mutations of multiple transcription factor genes involved in pituitary development
have been identified in a minor portion of patients with combined pituitary hormone …

Pituitary hormone deficiencies due to transcription factor gene alterations

R Reynaud, A Saveanu, A Barlier, A Enjalbert… - Growth hormone & IGF …, 2004 - Elsevier
Mechanisms that control pituitary development are gradually better understood. They
involve molecular signals from surrounding structures and the expression of a cascade of …

Hypothalamic and pituitary development: novel insights into the aetiology

D Kelberman, MT Dattani - European journal of endocrinology, 2007 - academic.oup.com
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis,
and is the end-product of a carefully orchestrated pattern of expression of signalling …

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

MT Dattani - Clinical endocrinology, 2005 - Wiley Online Library
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 …

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel …

ML Sobrier, C Brachet, MP Vié-Luton… - The Journal of …, 2012 - academic.oup.com
Context: Only 11 mutations have been reported in the transcription factor LHX3, known to be
important for the development of the pituitary and motor neurons. All patients were …

Clinical and genetic aspects of combined pituitary hormone deficiencies

F Castinetti, R Reynaud, A Saveanu… - Annales d' …, 2008 - pubmed.ncbi.nlm.nih.gov
Definition Congenital hypopituitarism is characterized by multiple pituitary hormone
deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph …

Role of transcription factors in midline central nervous system and pituitary defects

DKMT Dattani - Endocrine Involvement in Developmental …, 2009 - books.google.com
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis,
and is the end-product of a carefully orchestrated pattern of expression of signalling …