An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies

被引：0

作者：

Guerrero Fernandez, J. ^{[1
]}

Labrandero de Lera, C. ^{[2
]}

Gonzalez Casado, I. ^{[1
]}

Gracia Bouthelier, R. ^{[1
]}

机构：

[1] Hosp Infanta La Paz, Serv Endocrinol Pediat, Madrid, Spain

[2] Hosp Infanta La Paz, Serv Cardiol Pediat, Madrid, Spain

来源：

ANALES DE PEDIATRIA | 2011年 / 74卷 / 05期

关键词：

22q11.2; deletion; DiGeorge Syndrome; Type 1 diabetes mellitus; Facial asymmetry with crying; Endocrine manifestations; CARDIO-FACIAL SYNDROME; DIGEORGE-SYNDROME; PATIENT REPORT; SPECTRUM; AUTOIMMUNITY; PHENOTYPE; DEFECTS;

D O I：

10.1016/j.anpedi.2011.01.025

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion. (C) 2010 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L. All rights reserved.

引用

页码：327 / 331

页数：5

共 20 条

[1] Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders [J].

Arnold, PD ;

Siegel-Bartelt, J ;

Cytrynbaum, C ;

Teshima, I ;

Schachar, R .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 105 (04) :354-362

[2]

Ballesta Martinez M J, 2008, An Pediatr (Barc), V69, P304

[3]

Barisic I, 2008, COLLEGIUM ANTROPOL, V32, P165

[4] A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population [J].

Botto, LD ;

May, K ;

Fernhoff, PM ;

Correa, A ;

Coleman, K ;

Rasmussen, SA ;

Merritt, RK ;

O'Leary, LA ;

Wong, LY ;

Elixson, EM ;

Mahle, WT ;

Campbell, RM .

PEDIATRICS, 2003, 112 (01) :101-107

[5]

Brown JJ, 2004, J PEDIATR ENDOCR MET, V17, P1575

[6] THYROCALCITONIN-CONTAINING CELLS IN THE DIGEORGE ANOMALY [J].

BURKE, BA ;

JOHNSON, D ;

GILBERT, EF ;

DRUT, RM ;

LUDWIG, J ;

WICK, MR .

HUMAN PATHOLOGY, 1987, 18 (04) :355-360

[7] Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome [J].

Choi, JH ;

Shin, YL ;

Kim, GH ;

Seo, EJ ;

Kim, Y ;

Park, IS ;

Yoo, HW .

HORMONE RESEARCH, 2005, 63 (06) :294-299

[8] SPECTRUM OF THE DIGEORGE SYNDROME [J].

CONLEY, ME ;

BECKWITH, JB ;

MANCER, JFK ;

TENCKHOFF, L .

JOURNAL OF PEDIATRICS, 1979, 94 (06) :883-890

[9] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME [J].

DRISCOLL, DA ;

SPINNER, NB ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

GOLDBERG, RB ;

SHPRINTZEN, RJ ;

SAAL, HM ;

ZONANA, J ;

JONES, MC ;

MASCARELLO, JT ;

EMANUEL, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :261-268

[10] Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome [J].

Elder, DA ;

Kaiser-Rogers, K ;

Aylsworth, AS ;

Calikoglu, AS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (01) :17-19

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