We describe an unusual late presentation of 11β-hydroxylase deficiency in a severely virilized, 23 year old patient, who presented with intracerebral haemorrhage, hypertension and short stature. The patient was raised as a male but had hypospadias, absent testicles from birth and had precocious puberty during his childhood. Plasma testosterone level was elevated (16 ng/mL) with suppressed FSH a...

Chromosomal abnormality is one of the causal factors in the formation of the congenital heart defects. 65 patients (33 male and 32 female) with heart defects were referred for karyotyping and counseling. Chromosomal abnormalities were detected in 27 (41.5%) and 38 had a normal karyotype. Numerical abnormality was found in 21 (77.8%) and structural in 6 (22.2%), numerical was detected in 14 fema...

In natural populations of platyfish, Xiphophorus maculatus, there are three sex chromosomes--W, X, and Y. Females may have one of three genotypes: WY, WX, or XX, and males may have either XY or YY. The W chromosome can be considered a modified X that blocks the male-determining function of the Y. The platyfish may represent an evolutionary stage at which female heterogamety arises through a sin...

Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) "four core genotypes" mice, comprising XX and XY gonada...

In Drosophila, the gene Sex-lethal (Sxl) is required for female development. It controls sexual differentiation in the soma, dosage compensation and oogenesis. The continuous production of SXL proteins in XX animals is maintained by autoregulation and depends on virilizer (vir). This gene is required in somatic cells for the female-specific splicing of Sxl primary transcripts and for an unknown...

BACKGROUND Previously, investigators suggested that diagnostic substitution from other diagnoses, e.g., mental retardation (MR) and/or cerebral palsy (CP) to pervasive developmental disorder (PDD) is a driving factor behind increases in autism. This study evaluated potential diagnostic substitution among subjects diagnosed with PDD vs. MR or CP by examining birth characteristic overlap. METHO...

Heteropteran insects are characterized by holokinetic chromosomes, and, in most species, the post-reductional meiotic division of sex chromosomes and the presence of one chiasma per bivalent. The Reduviidae have a modal diploid autosomal number of 20 with a range between 12 to 34, and both simple and multiple sex chromosome systems (XY/XX, X0/XX, XnY/XnXn). Within this family cytogenetic report...

The origin of sex reversal in XX goats homozygous for the polled intersex syndrome (PIS) mutation was unclear because of the complexity of the mutation that affects the transcription of both FOXL2 and several long noncoding RNAs (lncRNAs). Accumulating evidence suggested that FOXL2 could be the sole gene of the PIS locus responsible for XX sex reversal, the lncRNAs being involved in transcripti...

We have identified a new X-linked gene, sdc-2, that controls the hermaphrodite (XX) modes of both sex determination and X chromosome dosage compensation in Caenorhabditis elegans. Mutations in sdc-2 cause phenotypes that appear to result from a shift of both the sex determination and dosage compensation processes in XX animals to the X 0 modes of expression. Twenty-eight independent sdc2 mutati...

BACKGROUND In human, SRY (sex-determining region of the Y chromosome) is the major gene for the testis-determining factor which is found in normal XY males and in the rare XX males, and it is absent in normal XX females and many XY females. There are several methods which can indicate a male genotype by the presence of the amplified product of SRY gene. The aim of this study was to identify the...