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Related Concept Videos

Major Hormones and Their Functions01:27

Major Hormones and Their Functions

Hormones, the biochemical messengers produced by endocrine glands, are pivotal in regulating bodily functions and maintaining homeostasis. Each hormone's balance is crucial; imbalances can lead to significant physiological disruptions. Major hormones include oxytocin, cortisol, epinephrine, estrogen, testosterone, thyroxine, growth hormone, insulin, and glucagon.
Oxytocin, produced in the hypothalamus and released by the pituitary gland, plays a role in social bonding, childbirth, and lactation.
Nature and Nurture01:10

Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience, such as differences...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...
Hormones of the Pituitary Gland01:27

Hormones of the Pituitary Gland

The small, pea-sized pituitary gland is located at the base of the brain. It is crucial in regulating various bodily functions, from growth to reproduction. The gland is divided into the anterior lobe and the posterior lobe. The secretory cell clusters in the pars distalis of the anterior pituitary lobe are controlled by hypothalamic regulators and synthesize six primary hormones.
The most abundantly secreted hormone from the anterior lobe is the growth hormone, which controls overall growth by...

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Updated: Jun 8, 2026

Development of Organoids from Mouse Pituitary as In Vitro Model to Explore Pituitary Stem Cell Biology
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Development of Organoids from Mouse Pituitary as In Vitro Model to Explore Pituitary Stem Cell Biology

Published on: February 25, 2022

Pituitary Developmental Gene Defects and Their Contribution to Growth Hormone Deficiency.

Karine Aouchiche1, Rachel Reynaud1, Theo Charnay2

  • 1Aix Marseille Univ, INSERM, Marseille Medical Genetics MMG, UMR 1251, Institut Marseille Maladies Rares MarMaRa, Service d'Endocrino-Pédiatrique, Hôpital de la Timone Enfant, Assistance Publique Hôpitaux de Marseille (APHM), Marseille, France.

Annales D'Endocrinologie
|June 6, 2026
PubMed
Summary
This summary is machine-generated.

Genetic mutations cause growth hormone deficiency (GHD), impacting hypothalamo-pituitary regulation and pituitary development. Understanding these genetic causes is key for diagnosis, counseling, and targeted therapies.

Keywords:
Pituitary deficiencyPituitary developmentgenetic defectsgrowth retardation

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Endocrinology
  • Genetics
  • Developmental Biology

Background:

  • Growth hormone deficiency (GHD) is a rare endocrine disorder causing growth failure.
  • Genetic factors affecting hypothalamo-pituitary GH regulation or pituitary development underlie GHD.
  • The anterior pituitary's development involves complex signaling and transcription factors.

Purpose of the Study:

  • To provide a comprehensive overview of known genetic causes of GHD.
  • To focus on the molecular mechanisms and phenotypes associated with GHD genetics.
  • To highlight the importance of genetic understanding for clinical management and therapy development.

Main Methods:

  • Review of existing literature on GHD genetics.
  • Analysis of gene mutations affecting GH regulation (GHRHR, GHSR, GH1).
  • Examination of mutations in transcription factors (POU1F1, PROP1, IGSF1, TBX19) and brain development genes (GLI2, LHX3, HESX1).

Main Results:

  • Mutations in GH1 are a primary cause of isolated GHD (IGHD).
  • Mutations in GHRHR and GHSR contribute to IGHD.
  • Defects in transcription factors and brain development genes can lead to syndromic GHD with multi-organ involvement.

Conclusions:

  • Understanding the genetic basis of GHD is crucial for improving diagnostic strategies and genetic counseling.
  • Targeted therapies for GHD can be developed based on identified genetic causes.
  • Human pituitary organoids offer new avenues for studying human-specific GHD regulatory mechanisms.