Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency
نویسندگان
چکیده
منابع مشابه
Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple ind...
متن کاملDifferent Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of two daughters with SHOX haploinsufficiency (46, X, del(X) (p.22.3)) and their mother with 45,X [9]/ 46, X, del(X) (p22.3) [11] karyotype. Physical and auxologi...
متن کاملBaseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency
Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluate...
متن کاملShort Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the imp...
متن کاملfeatures of short story in translated and non-translated literature: a polysystemic perspective
ترجمه متون ادبی در دنیای امروز از اهمیت ویژه ای برخوردار است. فرهنگ های مختلف با استفاده از متون ادبی ملل و فرهنگ های دیگر سعی در غنی کردن فرهنگ و ادبیات کشور خود دارند. کشور ما نیز از این قاعده مستثنی نیست. در ایران، ترجمه متون ادبی اروپائی که با دوران مشروطه ایرانی آغاز می شود موجب تغییرات اساسی در فرهنگ، شیوه زندگی و تفکر ایرانیان شده است. در این دوران نه تنها در امورات سیاسی و فکری کشور تغی...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2002
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje.0.1470249