Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
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Rakhi Malhotra
Abstract
Objectives
To evaluate if the parental origin of X-chromosome has an impact on the phenotype and biochemical profile in Turner syndrome (TS). Result of the previous studies have been equivocal and could be attributable to the multicentric study design with different experts examining heterogeneous TS population of various ethnic background.
Methods
A cross-sectional single center study from Northern India. Fifty nine diagnosed subjects of TS and their parents participated in the study. Parental origin of intact X-chromosome was determined using 12 highly polymorphic short tandem repeats (STR) on X-chromosome. For the evaluation of parent-of-origin effects, typical phenotypic traits including congenital malformations, anthropometry, body composition by dual energy X-ray absorptiometry (DXA) and biochemical profile were compared. Clinical stigmata of TS in all subjects were examined by a single expert.
Results
The intact X-chromosome was of maternal origin (Xm) in 49.1% subjects while 50.9% had paternal origin (Xp). Skeletal anomalies were more common in Xm group, out of which prevalence of short neck and short fourth metatarsal reached statistical significance (p=0.04 and 0.01 respectively). A strong correlation was observed between subject’s baseline height standard deviation score (Ht SDS) and paternal height (r=0.593, p<0.001), maternal height (r=0.564, p<0.001) and mid-parental height (MPH) (r=0.372, p=0.047) in Xp group. This effect was not seen in Xm subjects whose baseline Ht SDS showed no significant correlation with maternal height, paternal height or MPH. No differences were detected between the groups with regard to biochemical profile or body composition.
Conclusions
We speculate that the differences in skeletal anomalies and height correlations between Xm and Xp groups could be due to the modifying effect of epigenetic signature on short stature homeobox (SHOX) gene of Xm. SHOX gene is not modified on Xp thereby explaining the paucity of skeletal changes and height correlations in Xp subjects.
Funding source: Endocrine Society of India
Award Identifier / Grant number: WTIE2017005
Acknowledgments
We acknowledge the contribution of Senior Research Officer Eunice Marumudi for DNA extraction. Dr Vishnubhatla Sreenivas and Miss Vandana Rastogi performed the statistical analysis.
Research funding: This study was funded by Endocrine Society of India vide Grant number: WTIE2017005.
Author contributions: Dr Rajesh Khadgawat conceptualized the study design, methodology, contributed in acquisition of funds, supervised the study and edited the manuscript. Dr Rakhi Malhotra contributed in study design, methodology, data acquisition, formal analysis and writing of initial manuscript. Dr Rashmi Shukla contributed in study methodology, investigation, arrangement of resources and review of the manuscript. Dr Madhulika Kabra contributed in study methodology, investigation, arrangement of resources and review of the manuscript. Dr Yashdeep Gupta contributed in study methodology, arrangement of resources and review of the manuscript. Dr Viveka P Jyotsna contributed in study methodology, arrangement of resources and review of the manuscript. All authors accept responsibility for the entire content of the manuscript and give their final approval for the version to be published.
Competing interests: The funding organization 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.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013), and has been approved by the authors' Institutional Review Board (Institute Ethics Committee for Post Graduate Research, All India Institute of Medical Sciences, New Delhi 110029, INDIA).
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
