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Hyperthyroidism II: Pathophysiology

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Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...

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Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...

Hypothyroidism II: Pathophysiology

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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...

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Updated: May 14, 2026

An Ex vivo Culture System to Study Thyroid Development

An Ex vivo Culture System to Study Thyroid Development

Published on: June 6, 2014

22q11.2 Microduplication with thyroid hemiagenesis.

Hae Jung Kim¹, Heui Seung Jo, Eun-Gyong Yoo

¹Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

Hormone Research in Paediatrics

|February 1, 2013

Summary

This study reports the first case of congenital hypothyroidism with thyroid hemiagenesis in an infant with 22q11.2 microduplication. This finding suggests thyroid dysgenesis may be a shared feature in 22q11.2 deletion and microduplication syndromes.

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Area of Science:

Genetics
Endocrinology
Pediatrics

Background:

Chromosome 22q11.2 microduplication is rare, unlike the more common 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome).
Thyroid anomalies are frequent in 22q11.2 deletion syndrome, but scarce in microduplication cases.

Observation:

A male infant diagnosed prenatally with 22q11.2 microduplication presented with congenital hypothyroidism due to thyroid hemiagenesis postnatally.
The infant also exhibited bilateral hearing impairment, bilateral cryptorchidism, and penile torsion.
At two years, the patient was euthyroid on levothyroxine but displayed significant developmental delay.

Findings:

This case represents the first documented instance of congenital hypothyroidism with thyroid hemiagenesis associated with 22q11.2 microduplication.
Thyroid dysgenesis may be a shared clinical feature between 22q11.2 microduplication and deletion syndromes.

Implications:

The findings suggest that gene duplication and deletion in the 22q11.2 region can lead to similar phenotypes.
Thyroid dysgenesis should be considered in the clinical evaluation and management of individuals with 22q11.2 microduplication syndrome.