scholarly journals Turner Syndrome with Isochromosome Xq

2019 ◽  
Vol 09 (04) ◽  
pp. 243-245
Author(s):  
Gülbahar Güzel Erdal ◽  
Mahmut Balkan
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Growth Retardation ◽  
Primary Amenorrhea ◽  
Psychomotor Skills ◽  
Severe Phenotype ◽  
Laboratory Findings ◽  
Mosaic Karyotype

AbstractShort stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype–genotype description of Turner syndrome, which makes it an important contribution to the literature.

scholarly journals Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome

2011 ◽  
Vol 164 (6) ◽  
pp. 891-897 ◽  
Author(s):  
A Linglart ◽  
S Cabrol ◽  
P Berlier ◽  
C Stuckens ◽  
K Wagner ◽  
...  
Keyword(s):  
Glucose Metabolism ◽  
Short Stature ◽  
Turner Syndrome ◽  
Growth Retardation ◽  
Phase Iii ◽  
Height Velocity ◽  
Control Group ◽  
Open Label ◽  
Multicentre Phase ◽  
Young Girls

ObjectiveAdult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS.Subjects and methodsGirls (n=61) aged <4 years with TS receiving 0.035–0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism.ResultsAfter 4 years, a gain in mean H-SDS of 1.0 SDS (from −2.33±0.73 to −1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from −2.09±0.81 to −2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation.ConclusionEarly treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

scholarly journals Molecular genetic investigations of the cases of idiopathic short stature

2012 ◽  
Vol 58 (1) ◽  
pp. 45-53
Author(s):  
M V Vorontsova ◽  
M S Pankratova
Keyword(s):  
Growth Hormone ◽  
Growth Factor ◽  
Short Stature ◽  
Growth Retardation ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Idiopathic Short Stature ◽  
Laboratory Findings ◽  
Pathological Conditions ◽  
Gene Defects

Idiopathic short stature is the commonest form of growth retardation making up a heterogeneous group of pathological conditions characterized by a highly variable clinical picture. The molecular genetic investigations into the nature of idiopathic short stature encompass a combination of the accompanying clinical symptoms and laboratory findings. The present review is concerned with the principles of diagnostic studies pertaining to idiopathic short stature and the most widespread molecular gene defects in the growth hormone-insulin-like growth factor-1 system.

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

Hypothyroidism and Precocious Sexual Development: Another Case

PEDIATRICS ◽  
1973 ◽  
Vol 52 (1) ◽  
pp. 149-150
Author(s):  
Adolfo Perez Comas
Keyword(s):  
Weight Gain ◽  
Short Stature ◽  
Growth Retardation ◽  
Sexual Development ◽  
Similar Case ◽  
Pubic Hair ◽  
Breast Development ◽  
Attention Span ◽  
Admission Data ◽  
Irregular Menses

Recently, an article in Pediatrics by Costin et al.1 described two new cases of hypothyroidism and precocious sexual development. I would like to report another similar case with our available data. M.L.M., a 13-year-old girl was first seen by us at age 12-4/12 for short stature. Her history included growth retardation, diminution of attention span, somnolence, anorexia with weight gain, and constipation beginning between ages 4 to 6. At 9½ years of age irregular menses began, breast development was first noticed at 10 years, and pubic hair at 11½ years. Her initial admission data are in Table I.

Sign in / Sign up

Export Citation Format

Share Document