Transient Congenital Hypoparathyroidism and 22q11 Deletion

García-García, Emilio; Camacho-Alonso, J; Gómez-Rodríguez, M J; Castillo, Esperanza; Martínez-Aedo,; López-Siguero, Juan Pedro

doi:10.1515/jpem.2000.13.6.659

Cited by 6 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1). Hypoparathyroidism can be transient and resolved spontaneously in infancy and subsequently recurs in later childhood with permanent hypoparathyroidism [10, 18]. The infants resolved from hypoparathyroidism, thus, should be followed up for recurrence of symptomatic hypocalcemia.…”

Section: Discussionmentioning

confidence: 99%

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

et al. 2005

View full text Add to dashboard Cite

Background: Endocrine abnormalities, including hypocalcemia, thyroid dysfunction, and short stature, are associated with chromosome 22q11.2 microdeletion syndrome. This study was undertaken to examine the frequencies and clinical features of endocrine abnormalities in patients with 22q11.2 microdeletion syndrome. Methods: We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the verification of microdeletion by fluorescent in situ hybridization (FISH) using a probe of the DiGeorge syndrome critical region (TUPLE1) at 22q11.2 and a control probe, ARSA at 22q13. Serum total calcium, phosphorus, and intact parathyroid hormone (PTH) levels were measured, thyroid function test was performed, and serum IGF-1 and IGFBP-3 levels were also estimated. Height and weight of patients were compared with individual chronological ages. Results: Hypocalcemia was found in 20 patients (32.8%), and overt hypoparathyroidism in 8 (13.1%). Two patients (3.3%) showed autoimmune thyroid diseases, 1 each with Graves’ disease and Hashimoto thyroiditis. Ten patients (16.4%) were below the third percentile in height, but the serum IGF-1 level was normal in 9 out of these 10 patients. Conclusion: Our findings show that patients with chromosome 22q11.2 microdeletion syndrome present with variable endocrine manifestations and variable clinical phenotypes. In addition to FISH analysis, careful endocrine evaluations are required in patients with this microdeletion syndrome, particularly for those with hypoparathyroidism or thyroid dysfunction.

show abstract

Section: Discussionmentioning

confidence: 99%

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

et al. 2005

View full text Add to dashboard Cite

show abstract

“…Among these patients, there was an overt hypoparathyroidism in 8/20 (13%) patients [19]. Interestingly, hypoparathyroidism can be transient, which may resolve spontaneously in infancy and subsequently recur in later childhood with permanent hypoparathyroidism [20]. Many 22q11.2DS patients present with a hypocalcemic seizure which is predictive of complete hypoparathyroidism [21].…”

Section: Parathyroid Glandsmentioning

confidence: 99%

Head and neck manifestations of 22q11.2 deletion syndromes

Marom

Roth

Goldfarb

et al. 2011

Eur Arch Otorhinolaryngol

View full text Add to dashboard Cite

The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives ("22q11.2 deletion syndromes", 22q.11DS), consequently affecting the anatomy and physiology of head and neck (H&N) organs. The objective of this paper was to describe those manifestations. Two 22q11.2DS patients with H&N manifestations were studied along with a comprehensive review of the English literature, from 1975 to 2010 regarding the associated H&N malformations among 22q11.2DS. A 24-year-old mentally disabled 22q11.2DS male presented with right hemithyroid enlargement, causing significant compressive signs. Sonography revealed a homogeneous 8 × 3 cm lesion, replacing almost the entire thyroid lobe. Fine needle aspiration revealed colloid material and abundant eosinophils. The hemithyroidectomy specimen confirmed follicular adenoma. A 19-year-old mentally disabled 22q11.2DS female underwent CT-angiography due to an upper GI bleeding. The study revealed a vascular malformation in the infratemporal fossa. Reviewing the reported data regarding 22q11.2DS-associated H&N malformations revealed abnormalities and malfunctions of the thyroid gland, parathyroid glands, thymus agenesis, cleft palate, carotid artery aberrations, malformations of the larynx and trachea and esophageal dysmotility. 22q11.DS patients may present with H&N anatomical abnormalities, along with hormonal dysfunctions, which require special awareness once treatment is offered, especially when concerning anesthetic and surgical aspects. In addition, hSNF5/INI1, a tumor suppressor gene, detected at location 22q11.2 was described to be "knocked out" in some patients. This may be associated with H&N tumors reported in these patients.

show abstract

Genetic Causes of Hypoparathyroidism

Gafni

Levine

Molecular Biology of the Parathyroid

View full text Add to dashboard Cite

Transient Congenital Hypoparathyroidism and 22q11 Deletion

Cited by 6 publications

References 11 publications

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

Head and neck manifestations of 22q11.2 deletion syndromes

Genetic Causes of Hypoparathyroidism

Contact Info

Product

Resources

About