Anorchia (also called anorchidism or anorchism) is a
disorder of sex development
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromos ...
in which a person with
XY karyotype, which corresponds to
male
Male (symbol: ♂) is the sex of an organism that produces the gamete (sex cell) known as sperm, which fuses with the larger female gamete, or ovum, in the process of fertilization.
A male organism cannot reproduce sexually without access to ...
sex, is born without
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 testoster ...
. Within a few weeks of
fertilization
Fertilisation or fertilization (see spelling differences), also known as generative fertilisation, syngamy and impregnation, is the fusion of gametes to give rise to a new individual organism or offspring and initiate its development. Proce ...
, the
embryo
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male spe ...
develops rudimentary
gonads (testes), which produce hormones responsible for the development of the
reproductive system
The reproductive system of an organism, also known as the genital system, is the biological system made up of all the anatomical organs involved in sexual reproduction. Many non-living substances such as fluids, hormones, and pheromones are als ...
. If the testes fail to develop within eight weeks, the baby will develop
female
Female (Venus symbol, symbol: ♀) is the sex of an organism that produces the large non-motile ovum, ova (egg cells), the type of gamete (sex cell) that fuses with the Sperm, male gamete during sexual reproduction.
A female has larger gamet ...
genitalia (see
Swyer syndrome). If the testes begin to develop but are lost or cease to function between eight and 10 weeks, the baby will have
ambiguous genitalia
Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical bina ...
when it is born. However, if the testes are lost after 14 weeks, the baby will have partial male genitalia with the notable absence of gonads.
Tests
Test(s), testing, or TEST may refer to:
* Test (assessment), an educational assessment intended to measure the respondents' knowledge or other abilities
Arts and entertainment
* ''Test'' (2013 film), an American film
* ''Test'' (2014 film), ...
include observable lack of testes, low
testosterone
Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondar ...
levels (typical female levels), elevated
follicle stimulating hormone
Follicle-stimulating hormone (FSH) is a gonadotropin, a glycoprotein polypeptide hormone. FSH is synthesized and secreted by the gonadotropic cells of the anterior pituitary gland and regulates the development, growth, pubertal maturation, an ...
and
luteinizing hormone
Luteinizing hormone (LH, also known as luteinising hormone, lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior pituitary gland. The production of LH is regulated by gonadotropin-releasing hormone (GnRH) ...
levels, XY karyotype,
ultrasound
Ultrasound is sound waves with frequency, frequencies higher than the upper audible limit of human hearing range, hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hea ...
or
magnetic resonance imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio wave ...
showing absent gonadal tissue, low
bone density
Bone density, or bone mineral density, is the amount of bone mineral in bone tissue. The concept is of mass of mineral per volume of bone (relating to density in the physics sense), although clinically it is measured by proxy according to optica ...
, low
anti-Müllerian hormone
Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting hormone (MIH), is a glycoprotein hormone structurally related to inhibin and activin from the transforming growth factor beta superfamily, whose key roles are in growth differen ...
levels, and surgical exploration for evidence of male gonadal tissue.
Cause
Treatment
Treatment includes
androgen
An androgen (from Greek ''andr-'', the stem of the word meaning "man") is any natural or synthetic steroid hormone that regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This inc ...
(testosterone) supplementation to artificially initiate puberty, testicular prosthetic implantation, and psychological support.
Gender dysphoria
Gender dysphoria (GD) is the distress a person experiences due to a mismatch between their gender identitytheir personal sense of their own genderand their sex assigned at birth. The diagnostic label gender identity disorder (GID) was used until ...
may result in anorchic individuals who are
assigned male at birth and raised as male despite lacking the necessary masculinizing hormones during prenatal, childhood, and adolescent development. Anorchic individuals who have a female identity may be administered
estrogen
Estrogen or oestrogen is a category of sex hormone responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens that have estrogenic hormonal acti ...
alone in place of
testosterone
Testosterone is the primary sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testes and prostate, as well as promoting secondar ...
as no androgen blockers are necessary due to the lack of gonads.
Terminology
Other names for anorchia include
* ''congenital anorchia''
* ''vanishing testes syndrome''
* ''vanishing testes''
* ''empty scrotum''
* ''testicular regression syndrome (TRS)''
References
*
See also
*
Cryptorchidism
Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of ...
*
Monorchism
Monorchism (also monorchidism) is the state of having only one testicle within the scrotum.
Terminology
An individual having monorchism can be referred to as ''monorchid''.
Causes
This can be due to:
* One testicle not descending into the sc ...
*
Polyorchidism
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.
Polyorchidism i ...
*
46 XX 46 may refer to:
* 46 (number)
* ''46'' (album), a 1983 album by Kino
* "Forty Six", a song by Karma to Burn from the album ''Appalachian Incantation'', 2010
* One of the years 46 BC, AD 46, 1946
Events January
* January 6 - The 1946 No ...
*
Aphallia
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 from the Greek ''a-'' for "not", and ''phallos'' for "penis". It is classified a ...
External links
{{Male congenital malformations of genital organs, indeterminate sex and pseudohermaphroditism
Congenital disorders of male genital organs
Testicle
Intersex variations