Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene

C Asteria, JH Oliveira, J Abucham… - European journal of …, 2000 - academic.oup.com
Background One of the causes of combined pituitary hormone deficiency (CPHD) is
represented by Prophet of Pit-1 (PROP-1) gene inactivating mutations. This disorder is …

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

MI Pérez Millán, SA Vishnopolska… - … Genetics & Genomic …, 2018 - Wiley Online Library
Abstract Background Congenital Hypopituitarism is caused by genetic and environmental
factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone …

[HTML][HTML] SEMA3A and IGSF10 are novel contributors to combined pituitary hormone deficiency (CPHD)

B Budny, T Zemojtel, M Kaluzna, P Gut… - Frontiers in …, 2020 - frontiersin.org
Background: The mutation frequencies of pituitary transcription factors genes in patients with
combined pituitary hormone deficiencies (CPHD) vary substantially between populations …

[HTML][HTML] Analysis of ProP1 Gene in a Cohort of Tunisian Patients with Congenital Combined Pituitary Hormone Deficiency

M Moalla, M Mnif-Feki, W Safi, N Charfi… - Journal of Clinical …, 2022 - mdpi.com
Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to
defects in transcription factors that govern early pituitary development and the specification …

Clinical manifestations of impaired GnRH neuron development and function

HG Kim, B Bhagavath, LC Layman - Neurosignals, 2008 - karger.com
Gonadotropin-releasing hormone (GnRH) and olfactory neurons migrate together in
embryologic development, and disruption of this process causes idiopathic …

Role of prophet of Pit1 (PROP1) in gonadotrope differentiation and puberty

AH Vesper, LT Raetzman, SA Camper - Endocrinology, 2006 - academic.oup.com
The prophet of Pit1 (PROP1) gene is essential for normal gonadotropin production in both
humans and mice. Transgenic mice that overexpress PROP1 in gonadotropes and …

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 …

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency

MC Lemos, L Gomes, M Bastos, V Leite… - Clinical …, 2006 - Wiley Online Library
Objective 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 …

[图书][B] Pediatric endocrinology: a practical clinical guide

S Radovick, M Misra - 2018 - books.google.com
A state-of-the-art and concise resource presenting the clinical management of pediatric
endocrine diseases and disorders, this third edition of the highly regarded textbook covers …

Genetic defects in the development and function of the anterior pituitary gland

LJ Cushman, AD Showalter, SJ Rhodes - Annals of medicine, 2002 - Taylor & Francis
Genetic defects affecting the hypothalamic-pituitary-target organ axes can cause a variety of
diseases involving restricted or broad disruptions of human development and physiology. At …