[Turner's syndrome, diagnosis and therapeutical approach]. 2005

Evelina Moraru, and C Dumitrache, and Tania Rusu, and Aurelia Damian, and Cristina Rusu, and Ioana Cernescu, and Ana Olinic
Universitatea de Medicină şi Farmacie Gr T Popa Iaşi, Facultatea de Medicină, Spitalul de Pediatrie Sf Maria Iaşi, Clinica II Pediatrie.

Turner's Syndrome is a rare chromosomal disorder of females (1 : 2500) characterized by short stature and the lack of sexual development at puberty. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Diagnosis should be considered in individuals with primary or secondary amenorrhea and adult women with unexplained infertility, particularly when such individuals also are short in stature. In childhood, growth hormone therapy is standard to prevent short stature as an adult. Estrogen replacement therapy usually is required, but starting too early can compromise adult height. The most frequent, the possibility of a good diagnosis appears at puberty. The early diagnosis needs the karyotyping as screening method. The correct treatment, which is made on time, has a good mental and social life influence.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D014424 Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis
D019382 Human Growth Hormone A 191-amino acid polypeptide hormone secreted by the human adenohypophysis (PITUITARY GLAND, ANTERIOR), also known as GH or somatotropin. Synthetic growth hormone, termed somatropin, has replaced the natural form in therapeutic usage such as treatment of dwarfism in children with growth hormone deficiency. Somatotropin (Human),Somatropin (Human),Cryo-Tropin,Genotonorm,Genotropin,Humatrope,Maxomat,Norditropin,Norditropin Simplexx,Norditropine,Nutropin,Omnitrope,Recombinant Human Growth Hormone (Mammalian),Saizen,Serostim,Somatropin,Umatrope,Zomacton,hGH (Human Growth Hormone),r-hGH(m),r-hGH-M,Cryo Tropin,CryoTropin,Growth Hormone, Human
D041321 Chromosomes, Human, X The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans. X Chromosome, Human,Chromosome, Human X,Chromosomes, Human X,Human X Chromosome,Human X Chromosomes,X Chromosomes, Human

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