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Congenital atrophy of thyroid

MedGen UID:
574857
•Concept ID:
C0342154
•
Congenital Abnormality
SNOMED CT: Congenital atrophy of thyroid (237517001)

Professional guidelines

PubMed

Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. PMID: 26051299

Recent clinical studies

Etiology

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.
Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z, Keskes L, Fakhfakh F, Turki H
Orphanet J Rare Dis 2019 May 22;14(1):112. doi: 10.1186/s13023-019-1095-4. PMID: 31118107Free PMC Article
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H
J Clin Endocrinol Metab 2014 Jan;99(1):E169-76. Epub 2013 Dec 20 doi: 10.1210/jc.2013-2619. PMID: 24248179
Causes of appearance of scintigraphic hot areas on thyroid scintigraphy analyzed with clinical features and comparative ultrasonographic findings.
Iwata M, Kasagi K, Hatabu H, Misaki T, Iida Y, Fujita T, Konishi J
Ann Nucl Med 2002 Jun;16(4):279-87. doi: 10.1007/BF03000108. PMID: 12126098
Long term ocular and neurological involvement in severe congenital toxoplasmosis.
Meenken C, Assies J, van Nieuwenhuizen O, Holwerda-van der Maat WG, van Schooneveld MJ, Delleman WJ, Kinds G, Rothova A
Br J Ophthalmol 1995 Jun;79(6):581-4. doi: 10.1136/bjo.79.6.581. PMID: 7626575Free PMC Article
Familial infantile olivopontocerebellar atrophy.
Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S
Pediatr Neurol 1995 Jul;13(1):14-8. doi: 10.1016/0887-8994(95)00081-p. PMID: 7575842

Diagnosis

Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association.
Rai VR, Ibrahim MN, Javed MN, Khoso Z, Rathore H
J Ayub Med Coll Abbottabad 2023 Oct-Dec;35(Suppl 1)(4):S804-S806. doi: 10.55519/JAMC-S4-12486. PMID: 38406914
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Bezen D, Kutlu O, Mouilleron S, Rizzoti K, Dattani M, Guran T, Yeşil G
Am J Med Genet A 2022 Sep;188(9):2701-2706. Epub 2022 Jul 6 doi: 10.1002/ajmg.a.62888. PMID: 35792517
An updated literature review on maternal-fetal and reproductive disorders of Toxoplasma gondii infection.
Fallahi S, Rostami A, Nourollahpour Shiadeh M, Behniafar H, Paktinat S
J Gynecol Obstet Hum Reprod 2018 Mar;47(3):133-140. Epub 2017 Dec 8 doi: 10.1016/j.jogoh.2017.12.003. PMID: 29229361
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article
Endemic cretinism: toward a unifying hypothesis.
Boyages SC, Halpern JP
Thyroid 1993 Spring;3(1):59-69. doi: 10.1089/thy.1993.3.59. PMID: 8499765

Therapy

Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association.
Rai VR, Ibrahim MN, Javed MN, Khoso Z, Rathore H
J Ayub Med Coll Abbottabad 2023 Oct-Dec;35(Suppl 1)(4):S804-S806. doi: 10.55519/JAMC-S4-12486. PMID: 38406914
Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. PMID: 26051299
A Japanese patient of congenital hypothyroidism with cerebellar atrophy.
Tajima T, Fujiwara F, Sudo A, Saito S, Fujieda K
Endocr J 2007 Dec;54(6):941-4. Epub 2007 Nov 14 doi: 10.1507/endocrj.k07-105. PMID: 18000345
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article
Congenital intractable diarrhea of infancy in Iraqi Jews.
Straussberg R, Shapiro R, Amir J, Yonash A, Rachmel A, Bisset WM, Varsano I
Clin Genet 1997 Feb;51(2):98-101. doi: 10.1111/j.1399-0004.1997.tb02428.x. PMID: 9111996

Prognosis

A case report of central core disease with repeated foaming at the mouth as the initial symptom.
Zhang QY, Yin YY, Bai L, Xu X
Medicine (Baltimore) 2023 Dec 1;102(48):e36332. doi: 10.1097/MD.0000000000036332. PMID: 38050243Free PMC Article
Severe hypothyroidism due to atrophic thyroiditis from second year of life influenced developmental outcome.
Joergensen JV, Oerbeck B, Jebsen P, Heyerdahl S, Kase BF
Acta Paediatr 2005 Aug;94(8):1049-54. doi: 10.1111/j.1651-2227.2005.tb02044.x. PMID: 16188848
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article
Familial infantile olivopontocerebellar atrophy.
Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S
Pediatr Neurol 1995 Jul;13(1):14-8. doi: 10.1016/0887-8994(95)00081-p. PMID: 7575842

Clinical prediction guides

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H
J Clin Endocrinol Metab 2014 Jan;99(1):E169-76. Epub 2013 Dec 20 doi: 10.1210/jc.2013-2619. PMID: 24248179
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).
Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R
Cerebellum 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y. PMID: 22012410
Causes of appearance of scintigraphic hot areas on thyroid scintigraphy analyzed with clinical features and comparative ultrasonographic findings.
Iwata M, Kasagi K, Hatabu H, Misaki T, Iida Y, Fujita T, Konishi J
Ann Nucl Med 2002 Jun;16(4):279-87. doi: 10.1007/BF03000108. PMID: 12126098
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ
Am J Hum Genet 1998 Feb;62(2):391-9. doi: 10.1086/301721. PMID: 9463328Free PMC Article
Long term ocular and neurological involvement in severe congenital toxoplasmosis.
Meenken C, Assies J, van Nieuwenhuizen O, Holwerda-van der Maat WG, van Schooneveld MJ, Delleman WJ, Kinds G, Rothova A
Br J Ophthalmol 1995 Jun;79(6):581-4. doi: 10.1136/bjo.79.6.581. PMID: 7626575Free PMC Article

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