Rare Disease Database

XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a 46, XX karyotype (otherwise. 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally. XX male syndrome is a structural and numerical chromosomal condition that presents as a male with azoospermia. Typically, there is normal male external and. The 46,XX testicular disorder of sexual development is a rare condition, previously known as the Chapelle Syndrome after its first description. 46,XX male, namely testicular disorder of sexual development (DSD), is a rare clinical condition with a reported incidence of in.

Clinical and Genetic Study of a XX (SRY negative) Male.

It is the best journal to keep up to date with endocrine pathophysiology both in the clinical and in the research field. It publishes the best original articles of large research institutions, as well as prestigious reviews. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. This author reported patients with male phenotype and psychosexual identification in whom the gonad was of the testicular type and who had no microscopic or gross evidence of ovarian tissue and karyotype 46,XX. The XX male syndrome consists of a discordance between a male phenotype and a female karyotype. Spermatogenesis is highly deficient or absent, and patients are therefore infertile. However, Leydig cells have a variable development, and produce sufficient androgens to ensure marked post-pubertal virilization. Diagnosis is made at pubertal age, when the most common clinical and laboratory signs occur: gynecomastia, hypogonadism, shorter penile length, and infertility due to oligospermia or azoospermia. Height is usually normal, and well as psychomotor development and intellectual capacity. As regards management after diagnosis, regular monitoring, closer in puberty, is done, and repair surgery and psychological support is offered.

XX male syndrome (also called de la Chapelle syndrome, for a researcher who characterized it in ) is a rare sex chromosomal disorder. 46,XX maleness (XX male syndrome) is a rare disorder occurring in about 1 in 20,–25, newborn males (De la Chapelle ; Rajender et al. ). INTRODUCTION: 46 XX male syndrome (de la Chapelle syndrome) is a rarely seen genetic disorder causing male infertility. It is generally a result of unequal. XX male syndrome (also called de la Chapelle syndrome) is a rare sex chromosomal disorder in men. Usually it is caused by unequal crossing over between X. The XX male syndrome (OMIM ID #), now termed Testicular DSD (Testicular Disorder of Sexual Differentiation), was first described by La Chapelle and cols.

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