The evolving role of genetic tests in reproductive medicine

F Cariati, V D'Argenio, R Tomaiuolo - Journal of translational medicine, 2019 - Springer
Infertility is considered a major public health issue, and approximately 1 out of 6 people
worldwide suffer from infertility during their reproductive lifespans. Thanks to technological …

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 …

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 …

[HTML][HTML] Congenital hypopituitarism: various genes, various phenotypes

M Xatzipsalti, A Voutetakis… - Hormone and …, 2019 - thieme-connect.com
The ontogenesis and development of the pituitary gland is a highly complex process that
depends on a cascade of transcription factors and signaling molecules. Spontaneous …

Combined pituitary hormone deficiency: current and future status

F Castinetti, R Reynaud, MH Quentien, N Jullien… - Journal of …, 2015 - Springer
Over the last two decades, the understanding of the mechanisms involved in pituitary
ontogenesis has largely increased. Since the first description of POU1F1 human mutations …

[HTML][HTML] Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

FA Correa, M Nakaguma, JLO Madeira… - … of Endocrinology and …, 2019 - SciELO Brasil
The first description of patients with combined pituitary hormone deficiencies (CPHD)
caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and …

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism

D Kelberman, MT Dattani - Annals of medicine, 2006 - Taylor & Francis
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 …

Pituitary stem cell regulation: who is pulling the strings?

B Cox, H Roose, A Vennekens… - Journal of …, 2017 - joe.bioscientifica.com
The pituitary gland plays a pivotal role in the endocrine system, steering fundamental
processes of growth, metabolism, reproduction and co** with stress. The adult pituitary …

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency

AM Almatrafi, AM Hibshi, S Basit - Medicina, 2023 - mdpi.com
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare
heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and …

Common and uncommon mouse models of growth hormone deficiency

EO List, R Basu, DE Berryman, S Duran-Ortiz… - Endocrine …, 2024 - academic.oup.com
Mouse models of growth hormone deficiency (GHD) have provided important tools for
uncovering the various actions of GH. Nearly 100 years of research using these mouse lines …