Complete androgen insensitivity syndrome or testicular. A child born with ais is genetically male, but the external appearance of their genitals may be female or somewhere between male and female. Affected children will have an inguinal hernia before puberty or primary amenorrhea after puberty onset. Later, this syndrome was characterized for being a condition resulting from a complete or partial resistance to androgens in 46,xy individuals with normal male. Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female.
Complete androgen insensitivity syndrome an overview. Overview of people with complete androgen insensitivity syndrome cais. According to the grade of the remaining androgen receptor ar function, ais is classified as complete cais, partial pais or mild mais. In addition to the cais complete androgen insensitivity syndrome cases, we shall. In addition to the cais complete androgen insensitivity syndrome cases, we shall also include the only mais obese, inferile male client with. In complete androgen insensitivity syndrome, the body does not respond to androgen at all.
Longterm consequences of androgen insensitivity syndrome. Pais is less frequent than cais and has a highly variable clinical presentation from almost complete feminization to almost normal masculinization to individuals. Androgen insensitivity syndrome ais ais is one of the most commonly diagnosed xy dsd, with an estimated prevalence of 2. Oestrogen versus androgen in hormonereplacement therapy for. The 46,xy individuals with complete androgen insensitivity syndrome cais manifest as phenotypic females with female external genitalia, sometimes with an underdeveloped clitoris or labia minora, a short blindending vagina that is generally sufficient for coitus, and no uterus. Androgen insensitivity syndrome cais is a rare xlinked recessive androgen receptor disorder characterized by complete resistance to the actions of androgen in an individual with 46,xy karyotype. There are two categories of androgen insensitivity syndrome. Babies with androgen insensitivity syndrome ais will be genetically male, but will either have female genitals or an appearance between male and female genitalia. Androgen insensitivity syndrome ais is an intersex condition that results in the partial or complete inability of the cell to respond to androgens. The disease may express itself in the early stages of development in women. Treatment of the complete androgen insensitivity syndrome cais all studies implicate a female identity in complete androgen insensitivity syndrome, since the brain tissue is androgen resistant as well. Because a child with complete androgen insensitivity syndrome has secondary sex characteristics that appear female, the first indication of the syndrome during the childs life was either when she developed a hernia or did not menstruate at puberty. The phenotype ranges from normal female external genitalia in the complete form. In a country like ours where marriages are usually arranged at family level, the inadvertent same sex consensual marriages may remain unnoticed, undiagnosed and contributing to marital disharmony and breakdowns.
People with partial androgen insensitivity also called reifenstein syndrome. Complete androgen insensitivity syndrome cais is not a nouveau condition. A 22yearold female patient was admitted to our center for the evaluation of high blood sugar. Androgen insensitivity syndrome, or ais, is a genetic condition, inherited except for occasional spontaneous mutations, occurring in approximately 1 in 20,000 individuals.
Longterm medical, surgical, and psychosexual outcome 1. This form of the syndrome occurs in as many as 1 in 20,000 births. Androgen insensitivity syndrome in its complete form is a disorder of hormone. This is due to a lack of longterm information regarding medical, surgical, and psychosexual outcome in affected adults. We evaluated psychological outcomes and gender development in 22 women with complete androgen insensitivity syndrome cais. A person with androgen insensitivity syndrome can experience significant psychological distress secondary to. How is pediatric androgen insensitivity syndrome ais diagnosed. This failure of virilization can be either complete androgen insensitivity syndrome cais or partial androgen insens. Psychological outcomes and genderrelated development in. Participants were recruited through a medical database n 10 or through a patient support group n 12.
Complete androgen insensitivity syndrome in a young woman. Secretion samples were collected from the left and right eyes of women with cais n 9 and agerelated male controls n 10 and were analyzed and compared as described in figure 1 legend. A group of 14 women with cais and male xy sex chromosomes 1,6. Androgen insensitivity syndrome reproductive medicine.
Nov 18, 2015 complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. Androgen insensitivity syndrome ais intersex society. In infancy, complete androgen insensitivity syndrome presents as an inguinal hernia or labial. Pdf androgen insensitivity syndrome ais is a disorder caused by a.
Occasionally, a child is diagnosed when a growth is felt in the abdomen and determined to be a testicle during surgery. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised. As a result, they generally have normal female external genitalia and female breasts. Complete androgen insensitivity syndrome is an xlinked recessive androgen receptor disorder characterized by a female phenotype with an xy karyotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete various sexual ambiguities or complete the person appears to be a woman.
In table 1 the clinical features of ais subgroups are summarized. Cais is one of the conditions also known as intersex, or disorders or differences of sex development dsd. We report a case of complete androgen insensitivity syndrome in a 30 years old woman with primary amenorrhea. The whole syndrome the combination of physical changes that are characteristic of ais results from this alteration in a single gene. The partial and mild forms of androgen insensitivity syndrome result when the bodys tissues are partially sensitive to the effects of androgens. Jan, 2016 androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an xy karyotype and testes producing ageappropriate normal concen trations of. Role of imaging in the diagnosis and management of complete. There are 2 main types of ais, which affect people in different ways. Androgen insensitivity syndrome journal of pediatric and. Complete androgen insensitivity syndrome cais has been reported since 1923, but in 1953 it became known as testicular feminization. Hiort, hormone profiles in adolescents and adults with complete androgen insensitivity syndrome, in proceedings of the 3rd international symposium on disorders of sex development, lubech, denmark, may 2011.
As a result, individuals with this disorder are a genotypical male with xy karyotype, but without masculinization of external genitalia or. Surgeons then removed the testes and may have told the child that they removed her ovaries. Androgen insensitivity syndrome ais is an xchromosomelinked recessive disorder, being caused by a mutation that is inherited on a single x chromosome. The diagnosis should be addressed to the growing child with the help of psychologists. Baratz graduated from the university of pittsburgh school of medicine in 1984, and subsequently trained here in radiology. Complete androgen insensitivity syndrome can therefore sometimes be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth. The prevalence of ais has been estimated to be 1 case in every 20,000 to 64,000 newborn males for complete androgen insensitivity syndrome cais, and the prevalence is unknown for partial androgen insensitivity syndrome pais. Cais to normal male external genitalia associated with infertility andor. Complete androgen insensitivity syndrome a rare case report. Inherited androgen resistance results in diminished. The phenotype ranges from normal female external genitalia in the complete form cais to normal male external genitalia associated with infertility andor gynecomastia in the mild form mais. Complete androgen insensitivity syndrome wikipedia. Role of imaging in the diagnosis and management of. Androgen insensitivity syndrome the embryo project.
Complete androgen insensitivity syndrome is a major malady that hinders the ideal development of the sexual reproductive system. Testicular feminization or androgen insensitivity syndrome is a rare disease. Different clinical presentations and management in complete. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as impairing or preventing the development of male secondary sexual.
As such, the insensitivity to androgens is only clinically significant when it occurs in individuals with a y chromosome or, more specifically, an sry gene. In infancy, complete androgen insensitivity syndrome presents as an inguinal hernia or labial swelling containing a testis in an apparently female infant. Metabolic disorder and diabetes has been rarely reported in these patients patient concerns. Nov 28, 2016 testicular feminization or androgen insensitivity syndrome is a rare disease. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an xy karyotype and testes producing ageappropriate normal concentrations of androgens. Jul 31, 2018 women with complete androgen insensitivity syndrome cais after gonadectomy have complained about reduced psychological wellbeing and sexual satisfaction. Bilateral inguinal herniae are rare in female infantsthe incidence of complete androgen insensitivity syndrome in such patients is 12% during infancy. Pdf background the detection of the complete androgen insensitivity syndrome is not simple since diagnostic can start from different points. Because their bodies are unable to respond to certain male sex hormones called androgens, they may have mostly female external sex characteristics or signs of both male and. The incidence of complete androgen insensitivity syndrome cais is about 1 in 20,000. Anecdotal reports of androgen resistance date back to the 19th century and include suppositions that both queen anne and joan of arc were affected by the condition. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization. Partial or complete androgen insensitivity syndrome.
We have assessed by questionnaire and medical examination the physical and psychosexual status of 14 women with documented complete androgen insensitivity syndrome cais. A novel androgen receptor gene mutation in a 46,xy patient. Androgen insensitivity syndrome childrens hospital of. Sexual function in women with complete androgen insensitivity. Pdf complete androgen insensitivity syndrome a rare case.
Warne,mbbs, fracp associate professor and director department of endocrinology and diabetes royal childrens hospital parkville, victoria, australia complete androgen insensitivity syndrome. Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. It consists in the partial or complete inability of the cell to respond to. Androgen insensitivity syndrome ais is defined as female or ambiguous phenotype in a 46 xy male with normal testes and normal testosterone production and metabolism, genetic defects of human androgen receptors can cause a wide spectrum of ais, ranging fromphenotypicfemales in completeais to ambiguous. Comment on complete androgen insensitivity syndrome. Complete androgen insensitivity syndrome occurs early in xy fetal development when the androgen receptors completely fail to function, leading to the birth of a female infant. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. People with this condition are genetically male one x and one y chromosome but do not respond to male hormones at all. The aim of this paper is to present the diagnosis and treatment of a case of testicular feminization. A person with androgen insensitivity syndrome can experience significant psychological distress secondary to the ambiguity concerning their sexual anatomy. Case report complete androgen insensitivity syndrome. Androgen insensitivity syndrome ais is a rare condition that affects the development of a childs genitals and reproductive organs. The aim of this study was to compare the effectiveness of hormonereplacement therapy with either androgen or oestrogen in women with 46,xy karyotype and cais after gonadectomy. Previously referred to as testicular feminization, this condition is known as complete androgen insensitivity syndrome.
Part 3 of a nine part section on transgender people. In partial androgen insensitivity syndrome, the body responds partially to androgen. In an individual with complete ais, the bodys cells are unable to respond to androgen, or male hormones. People with cais are normal appearing females, despite the presence of testes and a 46, xy chromosome. Effect of complete androgen insensitivity syndrome cais on the neutral lipid mass spectrum of meibomian gland secretions. Androgen insensitivity syndrome or morris syndrome and other associated pathologies a novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome ca916798 affects growth and metastasis of androgen dependent prostate cancer cells.
Complete androgen insensitivity syndrome genetic and. Treatement requires timely gonadectomy, need for long term. The body can respond to feminising hormone oestrogen but not androgen. Male gender identity in complete androgen insensitivity. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance. Androgen insensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to androgens. Androgen insensitivity syndrome ais is an xlinked genetic disease and it is the most common cause of disorders of sex development dsd in 46,xy individuals. Symptoms and treatment see online here androgen insensitivity syndrome ais is a condition in which there is partial pais or complete cais resistance to testosterone. Complete androgen insensitivity syndrome in a young woman wi.
Controls included 14 males and 33 females, of whom 22 were matched to women with cais for age, race, and sexofrearing. Ais is an xlinked recessive disorder of sex development. Screening for complete androgen insensitivity syndrome in. The androgen insensitivity syndrome support group aissg is a ukbased group which started in 1988 formalised in 1993. Complete androgen insensitivity syndrome in a 46,xy individual is characterized by phenotypically normal female external genitalia figure 92. Androgen insensitivity syndrome genetics home reference. Complete androgen insensitivity syndrome and literature. This section of the web site deals with transgender persons. Androgen insensitivity syndrome genetics home reference nih. Pathogenesis is the result of mutations in the xlinked androgen receptor gene, which encodes for the ligandactivated androgen receptora transcription. Androgen insensitivity syndrome genetic and rare diseases. Androgen insensitivity syndrome ais occurs due to mutations in the androgen receptor ar gene. Oct 16, 2017 androgen insensitivity syndrome ais, formerly known as testicular feminization, is an xlinked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.
Pdf complete androgen insensitivity syndrome a rare. We searched pubmed with a larger emphasis on the physiology, genetics and current management of ais. People with this condition are genetically male, with one x chromosome and one y chromosome in each cell. Male hormones is an unfortunate term, since these hormones are ordinarily present and active in both. Androgen insensitivity syndrome ais, rare genetic disorder in which a genetically male individual fails to respond naturally to the effects of male hormones also known as androgens.
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