Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
-
Xuefeng Chen
,
Guanping Dong
Abstract
Background:
The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear.
Methods:
This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared.
Results:
Height standard deviation score (SDS) values at diagnosis were −2.51±0.58, −3.71±2.12 and −2.5±1.24 for inv (9), (45, X) and control groups, respectively (p=0.022). The inv (9) group showed lower body mass index (BMI) values compared with the (45, X) and control groups (F=5.097, p=0.008). Similar growth hormone deficiency (GHD) incidences were found in all groups. Interestingly, height SDS was positively correlated with mother height and patient BMI SDS (r=0.51, p=0.036; r=0.576, p=0.023, respectively) in the inv (9) group. In the (45, X) group, height SDS was positively correlated with birth weight (r=0.392, p=0.039).
Conclusions:
Short stature in inv (9) girls was correlated with low birth weight (LBW) and mother height.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Pediatric endocrinology is pediatrics is public health
- Original Articles
- Total body fat, abdominal fat, body fat distribution and surrogate markers for health related to adipocyte fatty acid-binding protein (FABP4) in children
- Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
- Vitamin D status in Egyptian children with type 1 diabetes and the role of vitamin D replacement in glycemic control
- Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
- Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
- Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
- Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
- Analysis of growth hormone receptor gene expression in tall and short stature children
- Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
- Increase of body mass index (BMI) from 1.5 to 3 years of age augments the degree of insulin resistance corresponding to BMI at 12 years of age
- Case Reports
- The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
- Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
- Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
- Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
- Letters to the Editor
- Growth-hormone deficiency in mitochondrial disorders
- Response to Growth hormone deficiency in mitochondrial disorders
Artikel in diesem Heft
- Frontmatter
- Editorial
- Pediatric endocrinology is pediatrics is public health
- Original Articles
- Total body fat, abdominal fat, body fat distribution and surrogate markers for health related to adipocyte fatty acid-binding protein (FABP4) in children
- Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
- Vitamin D status in Egyptian children with type 1 diabetes and the role of vitamin D replacement in glycemic control
- Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
- Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
- Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
- Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
- Analysis of growth hormone receptor gene expression in tall and short stature children
- Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
- Increase of body mass index (BMI) from 1.5 to 3 years of age augments the degree of insulin resistance corresponding to BMI at 12 years of age
- Case Reports
- The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
- Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
- Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
- Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
- Letters to the Editor
- Growth-hormone deficiency in mitochondrial disorders
- Response to Growth hormone deficiency in mitochondrial disorders
