Related Experiment Video
Updated: Jun 19, 2026
03:57
Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
Published on: July 14, 2023
Pseudohypoparathyroidism, an often delayed diagnosis: a case series
Valentina Donghi1, Stefano Mora, Ilaria Zamproni
1Department of Pediatrics, Vita-Salute San Raffaele University, Via Olgettina 60, 20132 Milan, Italy. v.donghi@studenti.hsr.it
Cases Journal
|October 16, 2009
Summary
Pseudohypoparathyroidism is a rare genetic disorder causing parathyroid hormone (PTH) resistance. Early diagnosis is challenging due to variable symptoms, emphasizing thorough biochemical testing for calcium-phosphate metabolism.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Pseudohypoparathyroidism (PHP) encompasses rare genetic disorders marked by parathyroid hormone (PTH) resistance.
- PHP presents as heterogeneous subtypes, including Ia, Ib, Ic, and type II, with sporadic or inherited patterns.
Observation:
- This report details four pediatric cases (ages 8-13) diagnosed during the 2007-2008 winter season.
- The cases illustrate the diverse clinical presentations of PHP, complicating early identification.
Findings:
- Typical biochemical markers include hypocalcemia, hyperphosphatemia, increased phosphate tubular reabsorption, and elevated PTH levels.
- Diagnosis can be difficult even without the full spectrum of Albright hereditary osteodystrophy features.
Implications:
- Highlights the critical need for comprehensive biochemical assessment of calcium-phosphate metabolism in suspected PHP cases.
- Emphasizes that variable phenotypes necessitate a high index of suspicion for timely diagnosis and management of pseudohypoparathyroidism.
Related Concept Videos
01:23Hypothyroidism 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...
00:59The Parathyroid Glands
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
01:27Hyperthyroidism 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...
01:24Graves 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...
01:25Hyperthyroidism 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...
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...