Genetic screening of combined pituitary hormone deficiency: experience in 195 patients

R Reynaud, M Gueydan, A Saveanu… - The Journal of …, 2006 - academic.oup.com
Context: Mutations in transcription factors result in combined pituitary hormone deficiency
(CPHD). Objective: A genetic screening strategy, based on endocrine and neuroradiological …

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 …

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 …

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

F De Rienzo, S Mellone, S Bellone, D Babu… - Clinical …, 2015 - Wiley Online Library
Objective Combined pituitary hormonal deficiency (CPHD) can result from mutations within
genes that encode transcription factors. This study evaluated the frequency of mutations in …

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 …

Panhypopituitarism: genetic versus acquired etiological factors

R Coya, A Vela, G Perez de Nanclares… - Journal of Pediatric …, 2007 - degruyter.com
Objective: Mutations in the genes encoding pituitary transcription factors (mainly PROP1,
POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency …

Mutation analysis of POUF‐1, PROP‐1 and HESX‐1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and …

LA Rainbow, SA Rees, MG Shaikh… - Clinical …, 2005 - Wiley Online Library
Objectives Mutations in the genes encoding the transcription factors PROP1 and POUF‐1
(Pit‐1) have been reported as common causes of combined pituitary hormone deficiency …

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 …

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study

F Baş, ZO Uyguner, F Darendeliler, Z Aycan… - Endocrine, 2015 - Springer
To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in
patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients …

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates

K McLennan, Y Jeske, A Cotterill… - Clinical …, 2003 - Wiley Online Library
Summary objective Mutations in the gene for the POU domain transcription factor POU1F1
(human Pit‐1) have been reported in patients with GH, TSH and PRL deficiencies. PROP1 …