The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...

CONTEXT Disorders of sex development (DSDs) may arise from genetic defects in testis or ovary determination. Current analytical technologies and improved understanding of major regulatory pathways have cast new insight into the genetic basis for these disorders. EVIDENCE ACQUISITION A PubMed search was performed for the years 2011-13 using the terms "disorder of sex development," "gonadal dys...

One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent Müllerian structures and different degrees...

People with disorders of sex development (DSD) may have impaired sex steroid production or their gonads removed before, during or after adolescence, thus requiring hormone replacement therapy (HRT) to induce puberty and/or maintain secondary sexual characteristics, to optimize bone health, and to promote physical and social well-being. Oestrogens are usually used for this purpose in persons rea...

Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...