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Hypothyroidism II: Pathophysiology

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...

Hyperthyroidism II: Pathophysiology

Hyperthyroidism II: Pathophysiology

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...

Hyperthyroidism I: Introduction

Hyperthyroidism I: Introduction

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...

Graves' Disease I: Introduction

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...

Graves Disease II: Pathophysiology

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...

The Thyroid Gland

The Thyroid Gland

The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...

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Updated: Jul 10, 2026

Transoral Endoscopic Thyroidectomy Vestibular Approach for Thyroid Lobectomy

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VACTERL-H associated with central hypothyroidism: a case report.

D Aliefendioglu¹, G Bademci, S Keskil

¹Department of Neonatology, University of Kirikkale, Faculty of Medicine, Kirikkale, Turkey.

Genetic Counseling (Geneva, Switzerland)

|November 21, 2007

Summary

VACTERL-H syndrome, a rare genetic disorder, typically involves multiple anomalies. This case highlights a novel association with central hypothyroidism, previously unreported in VACTERL-H patients.

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Transoral Endoscopic Thyroidectomy Vestibular Approach for Thyroid Lobectomy

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Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions

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Published on: February 9, 2024

Area of Science:

Medical Genetics
Pediatric Endocrinology
Developmental Biology

Background:

VACTERL-H syndrome is a rare, complex congenital disorder characterized by a constellation of anomalies including vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal abnormalities, and limb malformations.
This syndrome is known for its genetic basis and generally carries a poor prognosis, necessitating comprehensive management strategies.

Observation:

A newborn presented with severe hydrocephalus, proximal esophageal atresia, distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus with recto-urethral fistula, patent ductus arteriosus, bifid scrotum, vertebral defect, and sacral dimple.
Notably, the patient also exhibited central hypothyroidism, an association not previously documented in the VACTERL-H spectrum.
The infant did not present with any limb defects, deviating from the typical limb anomaly component of VACTERL-H.

Findings:

The presented case expands the known phenotypic spectrum of VACTERL-H syndrome.
This report documents the first instance of central hypothyroidism co-occurring with VACTERL-H syndrome.
The absence of limb defects in this patient further illustrates the variability within the syndrome's presentation.

Implications:

The identification of central hypothyroidism in VACTERL-H syndrome suggests a potential shared or interacting pathway in the pathogenesis of these conditions.
This finding may necessitate the inclusion of endocrine evaluations, specifically for thyroid function, in the diagnostic workup of VACTERL-H patients.
Further research is warranted to elucidate the genetic and molecular mechanisms underlying this newly observed association and its impact on patient prognosis.