Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
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Annelise B. Carvalho
Abstract
Background:
Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS.
Methods:
This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols. Data regarding reason for referral, age and height at diagnosis, birth data, pubertal features and dysmorphisms were analyzed.
Results:
TS was diagnosed in 36% of 516 patients; structural chromosome anomalies predominated (42%). Short stature was the main reason for referral of patients with and without TS. The mean age of patients at first visit, with TS or without TS was similar (11.89 and 11.35 years, respectively), however, infants and adolescents predominated in the TS group. The mean full-term birth weight was lower in patients with TS as well as height at diagnosis, but normal height z-score was found in 17% of patients. Spontaneous puberty occurred in 30% of TS patients aged 13 years or more, but most had pubertal delay. Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS.
Conclusions:
Though short stature, pubertal delay and typical stigmata should prompt investigation of TS, lack of one of these features should not exclude this hypothesis. Dysmorphisms other than those considered “typical” should be sought on physical examination.
Acknowledgments
The authors are grateful to the Cytogenetics Laboratory of the Department of Medical Genetics, Faculty of Medical Sciences, and to Center for Molecular Biology and Genetic Engineering – CBMEG, State University of Campinas (Unicamp).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported by Fundação Cearense de Apoio ao Desenvolvimento Científico e Tecnológico.
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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©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
