Intersex variations

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

human chromosomal condition

rare genetic disorder

thumb Hypospadias is a common malformation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth, although when including milder cases, is found in up to 4% of newborn males. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the

Cryptorchidism, also known as undescended testis (UDT), is the failure of one or both testicles to descend into the scrotum. The word is . It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional. thumb|Different fo

steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper- or hypo-androgeny manifestations resulting from steroidogenic enzyme deficiency

Hypogonadism means diminished functional activity of the gonads—the testicles or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females.

sex differentiation condition involving hormonal resistance due to androgen receptor dysfunction in a karyotypically male person

congenital atypical development of Müllerian ducts

A micropenis or microphallus is an unusually small penis. A common criterion is a dorsal (measured on top) penile length of at least 2.5 standard deviations smaller than the mean human penis size for age. A micropenis in adults is equal to when the erected penis is shorter than 7cm (2.7 inches), measures less than 4cm (1.5 inches) when flaccid, and/or when stretched penile length equal to or less than 1.9cm (0.75 in) in term infants, and 9.3 cm (3.67 in) in adults. The condition is usually recognized shortly after birth. The term is most often used medically when the rest of the penis, scrotum

Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital; it is otherwise acquired through deliberately induced clitoral enlargement, a form of body modification, by use of anabolic steroids, in particular testosterone. It can happen as part of a gender transition. It is clinically distinguishable from normal enlargement of the clitoris seen during sexual arousal.

form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects people with XX or XY chromosomes and causes atypical puberty and infertility

Diphallia, penile duplication (PD), diphallic terata, or diphallasparatus is an extremely rare developmental abnormality in which a male is born with two penises. The first reported case was by Johannes Jacob Wecker in 1609. Its occurrence is 1 in 5.5 million newborn.

human disease

gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo

Human disease

rare congenital condition where an individual with XX chromosomes is born with a penis and testes

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

Aphallia is a congenital malformation in which the phallus (penis or clitoris) is absent. It is also known as penile agenesis in the case of males. The word is derived . It is classified as a disorder of sex development.

Pseudohermaphroditism is a term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia. The term was contrasted with "true hermaphroditism" (now known as ovotesticular syndrome), a condition describing an individual with both female and male reproductive gonadal tissues. Associated conditions includes Persistent Müllerian duct syndrome and forms of androgen insensitivity syndrome.

chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome

outdated medical diagnosis for intersex persons with ovotesticular tissue

congenital disorder of the reproductive system

human disease

chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males

chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males

An ovotestis is a gonad with both testicular and ovarian aspects. In humans, ovotestes are an infrequent anatomical variation associated with gonadal dysgenesis. The only mammals where ovotestes are not characteristic of an infrequent variation are moles, wherein females possess ovotestes along with a masculinized clitoris. These ovotestes in nonpregnant female moles secrete eight times as much testosterone as the ovotestes of pregnant moles. In invertebrates that are normally hermaphroditic, such as most gastropods (snails and slugs) in the clade Eupulmonata, an ovotestis is a common feature

medical condition

Human disease

osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur

Human disease

intersex variation where one has XY chromosomes, male-typical reproductive organs and external genitalia, and some component(s) of a female-typical reproductive tract

congenital defect

intersex variation

Hypoestrogenism, or estrogen deficiency, refers to a lower than normal level of estrogen. It is an umbrella term used to describe estrogen deficiency in various conditions. Estrogen deficiency is also associated with an increased risk of cardiovascular disease, and has been linked to diseases like urinary tract infections and osteoporosis.

Hyperestrogenism, hyperestrogenic state, or estrogen excess, is a medical condition characterized by an excessive amount of estrogenic activity in the body.

medical condition

bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel

medical condition

human disease

rare genetic disorder

endocrine disease

Hypergonadism is a condition where there is a hyperfunction of the gonads. It can manifest as precocious puberty, and is caused by abnormally high levels of testosterone or estrogen, crucial hormones for sexual development. In some cases, it may be caused by a tumor, which can be malignant, but is more commonly benign. Anabolic steroids may also be a major cause of high androgen and estrogen functional activity. Other possible causes include head injuries and brain inflammatory diseases. Hypergonadism may contribute to symptoms such as precocious puberty and abnormal facial hair growth in fema

rare chromosomal disorder

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form

Polyorchidism is the incidence of more than two testicles. It is a very rare congenital disorder, with fewer than 200 cases reported in medical literature and six cases (two horses, two dogs and two cats) in veterinary literature.

genetic variation in which the body does not respond to estrogen

medical condition

46,XX/46,XY is either a chimeric or mosaic genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. Individuals with these conditions are classified as intersex.

medical condition

intersex variation where one has no response to androgens and is born with a vulva and clitoris