Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes

2021 ◽  
Vol 33 ◽  
pp. 234-244
Author(s):  
Mario Arrieta ◽  
Rosa Ramos Gaspar ◽  
Ana Luisa Santos
Keyword(s):  
Short Stature ◽  
Turner Syndrome

scholarly journals Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Age Estimation ◽  
Bone Age ◽  
Review Of Literature ◽  
X Ray ◽  
Dysmorphic Features ◽  
The Past ◽  
Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

scholarly journals Calineczki . O społecznych konstrukcjach zespołu Turnera

2019 ◽  
pp. 129-143
Author(s):  
Anna Krawczyk
Keyword(s):  
Everyday Life ◽  
Short Stature ◽  
Turner Syndrome ◽  
Chromosomal Abnormality ◽  
Ethnographic Research

Turner syndrome (TS) is a chromosomal abnormality that affects exclusively girls and always results in a short stature . This article is based on an ethnographic research whose main objective was to look into the narratives and daily practices of Polish girls diagnosed with TS . The article describes strategies adopted towards the bodily manifes- tations of TS in everyday life of Polish teenagers diagnosed with this condition . In this paper, I explore the meanings and practices around normalization of Turner Syndrome which are being negotiated in the process of socialization of children with TS .    

Resting energy expenditure in girls with Turner syndrome

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Gerhard Binder ◽  
Laura Frank ◽  
Julian Ziegler ◽  
Gunnar Blumenstock ◽  
Roland Schweizer
Keyword(s):  
Energy Expenditure ◽  
Short Stature ◽  
Turner Syndrome ◽  
Resting Energy Expenditure ◽  
Bioelectrical Impedance ◽  
Fat Free Mass ◽  
Gh Treatment ◽  
Age Related ◽  
Resting Energy

AbstractBackground:Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls.Methods:We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were −2.90 (TS), −3.32 (GHD), −3.69 (SGA) and −0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA).Results:At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups.Conclusions:At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.

Treatment of short stature in turner syndrome

1980 ◽  
Vol 96 (1) ◽  
pp. 176-177 ◽  
Author(s):  
Nikolaus Stahnke ◽  
Rolf P. Willig
Keyword(s):  
Short Stature ◽  
Turner Syndrome

scholarly journals Concurrent Van der Woude syndrome and Turner syndrome: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1668791 ◽  
Author(s):  
Evan Los ◽  
Hayley Baines ◽  
Ines Guttmann-Bauman
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Delayed Diagnosis ◽  
Chromosome 1 ◽  
Pituitary Insufficiency ◽  
Van Der Woude Syndrome ◽  
Unique Case ◽  
Second Sex ◽  
Interferon Regulatory Factor 6

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

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