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5α-Reductase 2 Deficiency
5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in '' SRD5A2'', a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum of presentations, most apparent in the genitalia where a male is born with an underdeveloped penis that might develop to various extents in puberty and hence be "raised as female" up to a certain age. 5αR2 is expressed in specific tissues and catalyzes the transformation of testosterone (T) to 5α-dihydrotestosterone (DHT). DHT plays a key role in the process of sexual differentiation in the external genitalia and prostate during development of the male fetus. 5αR2D is a result of impaired 5αR2 activity resulting in decreased DHT levels. This defect results in a spectrum of phenotypes including overt genital ambiguity, female appearing genitalia, hypospadias, penile urethra, and isolated micropenis. Affected males still develop typical m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens. Virilization is most commonly used in three medical and biology of sex contexts: prenatal biological sexual differentiation, the postnatal changes of typical chromosomal male (46, XY) puberty, and excessive androgen effects in typical chromosomal females (46, XX). It is also the intended result of androgen replacement therapy in males with delayed puberty and low testosterone. Prenatal virilization In the prenatal period, virilization refers to closure of the perineum, thinning and wrinkling (rugation) of the scrotum, growth of the penis, and closure of the urethral groove to the tip of the penis. In this context, ''masculinization'' is synonymous with ''virilization.'' Prenatal virilization of genetic females and undervirilization of genetic males are common causes of ambiguous genitalia and inter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Partial Androgen Insensitivity Syndrome
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the Eukaryote#Animal cell, cell to respond to androgens. It is an X linked recessive condition. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the Development of the reproductive system#External genitalia, masculinization of male genitalia in the developing fetus, as well as the development of male Secondary sex characteristics, secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in individuals with a Y chromosome (or more specifically, an SRY, SRY gene). Clinical features include ambiguous genitalia at birth and primary amenhorrhoea with clitoromegaly with inguinal masses. Mullerian structures are not present in the individual. PAIS is one of three types of androgen insensitivity syndrome, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gynecomastia
Gynecomastia (also spelled gynaecomastia) is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. Updated by Brent Wisse (10 November 2018) Gynecomastia can cause significant psychological distress or unease. Gynecomastia can be normal in newborn babies due to exposure to estrogen from the mother, in adolescents going through puberty, in older men over age 50, and/or in obese men. Most occurrences of gynecomastia do not require diagnostic tests. Gynecomastia may be caused by abnormal hormone changes, any condition that leads to an increase in the ratio of estrogens/androgens such as liver disease, kidney failure, thyroid disease and some non-breast tumors. Alcohol and some drugs can also cause breast enlargement. Other causes may include Klinefelter syndrome, metabolic dysfunction, or a natural decline in testosterone production. This may occur even if the l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens. Virilization is most commonly used in three medical and biology of sex contexts: prenatal biological sexual differentiation, the postnatal changes of typical chromosomal male (46, XY) puberty, and excessive androgen effects in typical chromosomal females (46, XX). It is also the intended result of androgen replacement therapy in males with delayed puberty and low testosterone. Prenatal virilization In the prenatal period, virilization refers to closure of the perineum, thinning and wrinkling (rugation) of the scrotum, growth of the penis, and closure of the urethral groove to the tip of the penis. In this context, ''masculinization'' is synonymous with ''virilization.'' Prenatal virilization of genetic females and undervirilization of genetic males are common causes of ambiguous genitalia and inter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prostate Hypoplasia
Prostate hypoplasia is the congenital abnormality of a small (or absent) prostate gland. Often associated with other abnormalities of the urogenital system. Often due to abnormality in mesenchymal cells and associated with prune belly syndrome. Observed in 5α-reductase 2 deficiency in which impaired 5α-dihydrotestosterone Dihydrotestosterone (DHT, 5α-dihydrotestosterone, 5α-DHT, androstanolone or stanolone) is an endogenous androgen sex steroid and hormone. The enzyme 5α-reductase catalyzes the formation of DHT from testosterone in certain tissues including ... (DHT) synthesis impairs prostate development which is DHT dependent. References {{Medicine-stub Symptoms ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testes
A testicle or testis (plural testes) is the male reproductive gland or gonad in all bilaterians, including humans. It is homologous to the female ovary. The functions of the testes are to produce both sperm and androgens, primarily testosterone. Testosterone release is controlled by the anterior pituitary luteinizing hormone, whereas sperm production is controlled both by the anterior pituitary follicle-stimulating hormone and gonadal testosterone. Structure Appearance Males have two testicles of similar size contained within the scrotum, which is an extension of the abdominal wall. Scrotal asymmetry, in which one testicle extends farther down into the scrotum than the other, is common. This is because of the differences in the vasculature's anatomy. For 85% of men, the right testis hangs lower than the left one. Measurement and volume The volume of the testicle can be estimated by palpating it and comparing it to ellipsoids of known sizes. Another method is to use cali ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ejaculatory Ducts
The ejaculatory ducts (''ductus ejaculatorii'') are paired structures in male anatomy. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and open into the urethra above the seminal colliculus. During ejaculation, semen passes through the prostate gland, enters the urethra and exits the body via the urinary meatus. Function Ejaculation Ejaculation occurs in two stages, the emission stage and the expulsion stage.Rathus, S. A., Nevid, J. S., Fichner-Rathus, L., Herold, E. S. (2010). ''Human Sexuality in a World of Diversity''. Pearsons Education Canada, Pearson Canada Inc. Toronto, ON. The emission stage involves the workings of several structures of the ejaculatory duct; contractions of the prostate gland, the seminal vesicles, the bulbourethral gland and the vas deferens push fluids into the prostatic urethra. The semen is stored here until ejaculation occurs. Muscles at the base of the penis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epididymides
The epididymis (; plural: epididymides or ) is a tube that connects a testicle to a vas deferens in the male reproductive system. It is a single, narrow, tightly-coiled tube in adult humans, in length. It serves as an interconnection between the multiple efferent ducts at the rear of a testicle (proximally), and the vas deferens (distally). Anatomy The epididymis is situated posterior and somewhat lateral to the testis. The epididymis is invested completely by the tunica vaginalis (which is continuous with the tunica vaginalis covering the testis). The epididymis can be divided into three main regions: * The head ( la, caput). The head of the epididymis receives spermatozoa via the efferent ducts of the mediastinium of the testis at the superior pole of the testis. The head is characterized histologically by a thick epithelium with long stereocilia (described below) and a little smooth muscle. It is involved in absorbing fluid to make the sperm more concentrated. The concentrat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seminal Vesicles
The seminal vesicles (also called vesicular glands, or seminal glands) are a pair of two convoluted tubular glands that lie behind the urinary bladder of some male mammals. They secrete fluid that partly composes the semen. The vesicles are 5–10 cm in size, 3–5 cm in diameter, and are located between the bladder and the rectum. They have multiple outpouchings which contain secretory glands, which join together with the vas deferens at the ejaculatory duct. They receive blood from the vesiculodeferential artery, and drain into the vesiculodeferential veins. The glands are lined with column-shaped and cuboidal cells. The vesicles are present in many groups of mammals, but not marsupials, monotremes or carnivores. Inflammation of the seminal vesicles is called seminal vesiculitis, most often is due to bacterial infection as a result of a sexually transmitted disease or following a surgical procedure. Seminal vesiculitis can cause pain in the lower abdomen, scrotum, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vasa Deferentia
The vas deferens or ductus deferens is part of the male reproductive system of many vertebrates. The ducts transport sperm from the epididymis to the ejaculatory ducts in anticipation of ejaculation. The vas deferens is a partially coiled tube which exits the abdominal cavity through the inguinal canal. Etymology ''Vas deferens'' is Latin, meaning "carrying-away vessel"; the plural version is ''vasa deferentia''. ''Ductus deferens'' is also Latin, meaning "carrying-away duct"; the plural version is ''ducti deferentes''. Structure There are two vasa deferentia, connecting the left and right epididymis with the seminal vesicles to form the ejaculatory duct in order to move sperm. The (human) vas deferens measures 30–35 cm in length, and 2–3 mm in diameter. The vas deferens is continuous proximally with the tail of the epididymis. The vas deferens exhibits a tortuous, convoluted initial/proximal section (which measures 2–3 cm in length). Distally, it forms a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Compound Heterozygous
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective. These disorders are often best known in some classic form, such as the homozygous recessive case of a particular mutation that is widespread in some population. In its compound heterozygous forms, the disease may have lower penet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
