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48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty.
The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth, to patients with completely male or female gonads. Most individuals with this karyotype have apparently normal male genitalia , and a minority have female genitalia , with a significant number of individuals showing genital ...
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).
46,XX DSD: Genetic Female Sex Chromosomes. Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY DSD: Genetic Male Sex Chromosomes. Individuals with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action.
Amenorrhea or amenorrhoea is the absence of a menstrual period in a female who has reached reproductive age. [1] Physiological states of amenorrhoea are most commonly seen during pregnancy and lactation (breastfeeding). [1] Amenorrhoea is a symptom with many potential causes. [2]
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5-DHT or DHT is a male reproductive hormone that targets the prostate gland, bulbourethral gland, seminal vesicles, penis and scrotum and promotes growth/mitosis/cell maturation and differentiation. Testosterone is converted to 5-DHT by 5alpha-reductase, usually with in the target tissues of 5-DHT because of the need for high concentrations of ...