Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome

被引：5

作者：

Ersoy, Betul ^{[1
]}

Ozhan, Bayram ^{[1
]}

Kiremitci, Seniha ^{[1
]}

Rubio-Cabezas, Oscar ^{[2
]}

Ellard, Sian ^{[3
]}

机构：

[1] Celal Bayar Univ, Sch Med, Div Pediat Endocrinol & Metab, TR-45000 Manisa, Turkey

[2] Hosp Infantil Univ Nino Jesus, Dept Endocrinol, Madrid, Spain

[3] Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter EX2 5AD, Devon, England

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2014年 / 173卷 / 12期

基金：

英国惠康基金;

关键词：

Wolcott-Rallison Syndrome; Infantile-onset diabetes mellitus; Primary hypothyroidism; MUTATION; EIF2AK3;

D O I：

10.1007/s00431-013-2110-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Wolcott-Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott-Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.

引用

页码：1565 / 1568

页数：4

共 46 条

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Betül Ersoy
Bayram Özhan
Seniha Kiremitçi
Oscar Rubio-Cabezas
Sian Ellard
European Journal of Pediatrics, 2014, 173 : 1565 - 1568
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Uroic, Anita Spehar
Kotori, Vjosa Mulliqi
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Kusec, Vesna
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EUROPEAN JOURNAL OF PEDIATRICS, 2014, 173 (04) : 529 - 531
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[4] Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism
Bin-Abbas, B
Al-Mulhim, A
Al-Ashwal, A
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (02): : 187 - 190
[5] Autopsy findings in the Wolcott-Rallison syndrome
Thornton, CM
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[6] Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome
Ucar, A.
Aydemir, Y.
Dogan, A.
Tuncez, E.
DIABETIC MEDICINE, 2016, 33 (03) : E13 - E16
[7] Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott–Rallison syndrome
Anita Špehar Uroić
Vjosa Mulliqi Kotori
Nataša Rojnić Putarek
Vesna Kušec
Miroslav Dumić
European Journal of Pediatrics, 2014, 173 : 529 - 531
[8] Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
Lundgren, Markus
De Franco, Elisa
Arnell, Henrik
Fischler, Bjoern
CLINICAL CASE REPORTS, 2019, 7 (06): : 1133 - 1138
[9] Wolcott-Rallison Syndrome: A Case Report of Novel Mutation
Arshad, Kashan
Hussain, Syed Saddam
Aftab, Sommayya
Saeed, Anjum
Cheema, Huma Arshad
HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 166 - 166
[10] Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
Dias, R. P.
Buchanan, C. R.
Thomas, N.
Lim, S.
Solanki, G.
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ORPHANET JOURNAL OF RARE DISEASES, 2016, 11

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