Monogenic disorders of puberty
SN Kalantaridou, GP Chrousos - The Journal of Clinical …, 2002 - academic.oup.com
Normal puberty is associated with the onset and progressive activation of the hypothalamic-
pituitary-gonadal (HPG) axis and the resultant development of secondary sexual …
pituitary-gonadal (HPG) axis and the resultant development of secondary sexual …
The spectrum of hypopituitarism caused by PROP1 mutations
S Mody, MR Brown, JS Parks - Best Practice & Research Clinical …, 2002 - Elsevier
Mutations in the PROP1 gene are responsible for a high proportion of cases of multiple or
combined anterior pituitary hormone deficiencies in humans. The physical and hormonal …
combined anterior pituitary hormone deficiencies in humans. The physical and hormonal …
Persistent Expression of Notch2 Delays Gonadotrope Differentiation
LT Raetzman, BS Wheeler, SA Ross… - Molecular …, 2006 - academic.oup.com
Normal pituitary gland development requires coordination between maintenance of
progenitor cell pools and selection of progenitors for differentiation. The spatial and temporal …
progenitor cell pools and selection of progenitors for differentiation. The spatial and temporal …
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty
A Arroyo, F Pernasetti, VV Vasilyev… - Clinical …, 2002 - Wiley Online Library
We report a 28‐year‐old‐female who presented with primary amenorrhoea, absence of
puberty, obesity and normal stature. The subject was clearly short as a child, with a height …
puberty, obesity and normal stature. The subject was clearly short as a child, with a height …
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1
MGF Osorio, P Kopp, S Marui… - The Journal of …, 2000 - academic.oup.com
Mutations in the pituitary-specific paired-like homeodomain transcription factor, PROP-1,
result in combined pituitary hormone deficiency. We studied a Brazilian girl, offspring of first …
result in combined pituitary hormone deficiency. We studied a Brazilian girl, offspring of first …
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 …
patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients …
[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 …
defects in transcription factors that govern early pituitary development and the specification …
[HTML][HTML] Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
F Simm, A Griesbeck, D Choukair, B Weiß… - Genetics in …, 2018 - Elsevier
Purpose Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or
underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several …
underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several …
Combined pituirary hormone deficency: role of Pit‐1 and Prop‐1
RW Pfaffle, O Blankenstin, S Wüller… - Acta …, 1999 - Wiley Online Library
During fetal development of the anterior pituitary gland, a number of sequential processes
occur that effect cell differentiation and proliferation. Molecular anlyses have revealed …
occur that effect cell differentiation and proliferation. Molecular anlyses have revealed …
[HTML][HTML] Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
E Bertko, J Klammt, P Dusatkova, M Bahceci… - Journal of Human …, 2017 - nature.com
Pituitary development depends on a complex cascade of interacting transcription factors and
signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone …
signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone …