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Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.

Abstract 22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06±1.07 SD (P <0.0001). Height-SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (-1.5±1.4 vs. -0.6±0.8, P=0.036), with lower height-SDS in the subgroup of participants with severe heart defects (-2.1±1.6, P=0.009). Mean IGF1-SDS was low (-0.99±1.68) but was not correlated with height-SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.
PMID
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Authors

Mayor MeshTerms
Keywords

22q11.2 deletion syndrome

DiGeorge syndrome

congenital heart disease

growth

hypoparathyroidism

thyroid

velocardiofacial syndrome

Journal Title american journal of medical genetics. part a
Publication Year Start




PMID- 28421700
OWN - NLM
STAT- In-Process
DA  - 20170419
LR  - 20170419
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 173
IP  - 5
DP  - 2017 May
TI  - Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
PG  - 1301-1308
LID - 10.1002/ajmg.a.38175 [doi]
AB  - 22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features
      including endocrine abnormalities. We aimed to characterize growth patterns,
      hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS.
      Anthropometric and laboratory measurements were obtained from the charts of 48
      individuals (males=28, 8.0+/-6.8 visits/participant) followed at a national
      22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3+/-4.9 years and 
      age at last evaluation 11.2+/-7.2 years. Median height-SDS was negative at all
      ages. Height-SDS at last visit was correlated to the midparental height-SDS
      (r=0.52 P=0.002). Yet, participants did not reach their target height, with a
      difference of 1.06+/-1.07 SD (P &lt;0.0001). Height-SDS at last visit of
      participants with a heart defect was lower compared to participants with a normal
      heart (-1.5+/-1.4 vs. -0.6+/-0.8, P=0.036), with lower height-SDS in the subgroup
      of participants with severe heart defects (-2.1+/-1.6, P=0.009). Mean IGF1-SDS
      was low (-0.99+/-1.68) but was not correlated with height-SDS. Thirteen patients 
      (27%) had hypoparathyroidism: 10 presented during infancy and 3 during
      adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In
      conclusions, individuals with 22q11.2 DS have a distinct growth pattern
      consisting of growth restriction at all ages, resulting in final adult height in 
      the low-normal range. Hypoparathyroidism is common and may present during the
      neonatal period as well as later in life. Thyroid abnormalities may present
      during childhood, adolescence, or adulthood.
CI  - (c) 2017 Wiley Periodicals, Inc.
FAU - Levy-Shraga, Yael
AU  - Levy-Shraga Y
AD  - Pediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's 
      Hospital, Sheba Medical Center, Ramat Gan, Israel.
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
FAU - Gothelf, Doron
AU  - Gothelf D
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - The Child Psychiatric Unit, Edmond and Lilly Safra Children's Hospital, Sheba
      Medical Center, Ramat Gan, Israel.
FAU - Goichberg, Zohar
AU  - Goichberg Z
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
FAU - Katz, Uriel
AU  - Katz U
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Edmond Safra International Congenital Heart Center, Edmond and Lilly Safra
      Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
FAU - Somech, Raz
AU  - Somech R
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
AD  - Pediatric Department of B North and Immunology Service Edmond and Lilly Safra
      Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
FAU - Pinhas-Hamiel, Orit
AU  - Pinhas-Hamiel O
AD  - Pediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's 
      Hospital, Sheba Medical Center, Ramat Gan, Israel.
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
FAU - Modan-Moses, Dalit
AU  - Modan-Moses D
AD  - Pediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's 
      Hospital, Sheba Medical Center, Ramat Gan, Israel.
AD  - The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
LA  - eng
PT  - Journal Article
DEP - 20170216
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
OTO - NOTNLM
OT  - 22q11.2 deletion syndrome
OT  - DiGeorge syndrome
OT  - congenital heart disease
OT  - growth
OT  - hypoparathyroidism
OT  - thyroid
OT  - velocardiofacial syndrome
EDAT- 2017/04/20 06:00
MHDA- 2017/04/20 06:00
CRDT- 2017/04/20 06:00
PHST- 2016/10/26 [received]
PHST- 2016/12/19 [revised]
PHST- 2017/01/19 [accepted]
AID - 10.1002/ajmg.a.38175 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2017 May;173(5):1301-1308. doi: 10.1002/ajmg.a.38175. Epub 2017
      Feb 16.

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