BACKGROUND Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects...

This syndrome is thought to have been originally described by Ullrich (1930) and Turner (1938), but Meyer (1925) and Baer (1927) have given earlier descriptions of cases of 'ovarian agenesis' presenting with androgenic manifestations. Grumbach, van Wyk and Wilkins (1955), in a thorough review of the subject, have proved the value of sex typing of nuclei in 22 cases, and by basing the same argum...

Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patie...

Fetal nuchal cystic hygromas (NCH) are congenital malformations of the lymphatic system and can be defined as an area of sonolucency in the soft tissue of the occipital region, consisting of two symmetrical cavities completely separated by a midline septum (nuchal ligament), with or without internal trabeculae (multiloculated cysts). Diagnosis can be made at first trimester of pregnancy using v...

INTRODUCTION Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable. OBJECTIVES We intended to a...

OBJECTIVE To address the characteristics of hearing loss in patients with Turner syndrome (TS), we evaluated hearing levels of patients with TS and analyzed causative factors. STUDY DESIGN Thirty-three patients with TS (8 to 40 years of age) were studied through the use of audiological measurements, and causative factors were explored. RESULTS Twenty cases (35 of 66 ears tested) showed high...

Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g. infantile esotropia syndrome), particularly the ones associated with multisystem disord...

OBJECTIVE To determine the pattern of early growth disturbance in chromosomally abnormal fetuses by comparing the volume of the fetal head to that of the trunk. METHODS The fetal trunk and head volume was measured using three-dimensional (3D) ultrasound in 145 chromosomally abnormal fetuses at a median gestational age of 12 (range, 11 + 0 to 13 + 6) weeks. The head volume was measured separat...

BACKGROUND/PURPOSE Short stature is a common manifestation of Turner syndrome. The purpose of this study was to evaluate the effect of growth hormone (GH) therapy alone on the adult height of children with Turner syndrome. METHODS From 1987 to 2006, 21 Turner syndrome patients who had been treated with GH for >2 years and had reached adult height were enrolled in the study. The dosage of GH w...