Related Experiment Video

Updated: Aug 9, 2026

Endoscopic Endonasal Trans-sphenoidal Approach: Minimally Invasive Surgery for Pituitary Adenomas
07:43

Endoscopic Endonasal Trans-sphenoidal Approach: Minimally Invasive Surgery for Pituitary Adenomas

Published on: January 17, 2018

Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia

Dominique Simon1, Charalambos Hadjiathanasiou, Catherine Garel

  • 1Pediatric Endocrinology and Diabetes Unit, Robert Debré Hospital, Assistance Publique--Hôpitaux de Paris, Paris VII University, France. dominique.simon@rdb.ap-hop-paris.fr

Clinical Endocrinology
|April 6, 2006
PubMed

Insights

Genetic factors likely contribute to posterior pituitary ectopia (PPE) and growth hormone deficiency (GHD). This study found a high rate of birth defects and familial cases, suggesting a role for genetics in this pituitary disorder.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Developmental Biology

Background:

  • Posterior pituitary ectopia (PPE) with anterior pituitary hormone deficiencies is a rare condition with an unknown cause.
  • It is typically considered a sporadic disorder, lacking clear genetic links.

Purpose of the Study:

  • To enhance the phenotypic characterization of children with PPE and growth hormone deficiency (GHD).
  • To investigate potential mechanisms underlying abnormal pituitary gland development in affected children.

Main Methods:

  • A retrospective chart review was conducted on sixty children diagnosed with GHD and PPE between 1988 and 2003.
  • Phenotypic abnormalities and family histories were analyzed.

Main Results:

  • Over half of the patients (52%) exhibited known extra-pituitary birth defects (BDs), including well-defined syndromes and malformations affecting multiple organ systems.
  • Seven familial cases (12%) were identified, displaying varied presentations and suggesting diverse genetic transmission patterns (autosomal dominant, recessive, or X-linked).
  • Consanguinity was noted in 12% of cases.

Conclusions:

  • The significant prevalence of extra-pituitary birth defects and familial occurrences strongly suggests a role for genetic factors in the pathogenesis of PPE.
  • Further detailed phenotyping of patients with GHD and PPE is crucial for generating hypotheses for future genetic research.
Abstract

More Related Videos

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Related Concept Videos

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...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Genetic Lingo01:11

Genetic Lingo

Overview
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...