Related Experiment Video

Updated: Aug 11, 2026

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
02:22

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection

Published on: April 12, 2024

Two children with cerebral gigantism and congenital primary hypothyroidism

J A Hulse

    Developmental Medicine and Child Neurology
    |April 1, 1981
    PubMed

    Insights

    Congenital primary hypothyroidism in children can paradoxically cause excessive growth, presenting features of cerebral gigantism. This rare association, seen in two children, highlights a unique endocrine-growth disorder presentation.

    Area of Science:

    • Pediatric Endocrinology
    • Genetics
    • Developmental Biology

    Background:

    • Congenital primary hypothyroidism is a condition present at birth affecting thyroid hormone production.
    • Cerebral gigantism, also known as Sotos syndrome, is a genetic disorder characterized by excessive growth and distinctive facial features.

    Observation:

    • Two pediatric cases presented with congenital primary hypothyroidism and features consistent with cerebral gigantism.
    • One patient was diagnosed with complete athyreosis, meaning the absence of a thyroid gland.

    Findings:

    • The study documents a rare association between congenital primary hypothyroidism and cerebral gigantism.
    • This specific combination of conditions has been previously reported in only one other child.

    Implications:

    • This finding suggests a potential, albeit uncommon, link between thyroid hormone deficiency and growth patterns typically seen in cerebral gigantism.
    • Further research may elucidate shared genetic or developmental pathways contributing to this unusual presentation.
    • Understanding this association can aid in the diagnosis and management of children with complex endocrine and growth disorders.

    More Related Videos

    A Versatile, Behavioral Method to Investigate Thyroid Hormone Effects on Cerebellar Function04:05

    A Versatile, Behavioral Method to Investigate Thyroid Hormone Effects on Cerebellar Function

    Published on: October 6, 2023

    Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe06:04

    Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe

    Published on: August 16, 2024

    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...
    Diabetes Mellitus: Overview and Type I Subtype01:22

    Diabetes Mellitus: Overview and Type I Subtype

    Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
    Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
    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...
    Diabetes Mellitus: Type 2 and Gestational01:22

    Diabetes Mellitus: Type 2 and Gestational

    Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
    Type I Diabetes I: Introduction01:12

    Type I Diabetes I: Introduction

    Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...