This is dramatically illustrated by the complete form of the syndrome cais characterised by xy sex reversal and a female phenotype despite serum concentrations of testosterone. Phenotypic features, androgen receptor binding, and. Sexual function in women with complete androgen insensitivity. The term reifenstein syndrome formerly was used to describe partial androgen insensitivity with intermediate degrees of masculinization. Androgen insensitivity syndrome ais is an intersex condition occurring in 1. Pais is characterized by varying degrees of ambiguity of the external genitalia. Pdf androgen insensitivity syndrome miguel angel motos.
Pdf androgen insensitivity syndrome vickie pasterski. In boys with suspected partial androgen insensitivity syndrome pais. Accepted on april 24th, 2019 introduction androgen insensitivity syndrome ais is a mendelian mode of inheritance xlinked disorder with an estimated incidence of 1 in 20,000 to 1 in 62,000 males 1. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual.
It depends on an xlinked mutations in the androgen receptor ar gene that express a variety of phenotypes ranging from male infertility to. In addition, the wolffian duct may develop to a variable extent. Participants were recruited through a medical database n 10 or through a patient support group n 12. 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 androgens. Patients sixty one cases of ais with androgen receptor ar dysfunction abnormalities of the ar gene andor abnormal ar binding. Androgen insensitivity syndrome ais was first described in details by morris, who provided the descriptive termstesticular feminization syndrome for this disorder, which is inherited as xlinked recessive disorder. Direct sequencing of amplified exons eg of the androgen receptor gene from the resected tumor identified a cga to caa substitution in exon e, resulting in arginine to glutamine replacement at codon 752. Cais is an xlinked condition that typically presents in an adolescent female who has breast development with a pubertal growth spurt but who has not had her menarche table 2316. Treatment of pais in individuals with predominantly female genitalia is similar to treatment of cais, but is more likely to include prepubertal gonadectomy to help.
A person with androgen insensitivity syndrome can experience significant psychological distress secondary to. Syndrome has been linked to mutations in ar, the gene for the human androgen receptor, located at xq1112 leading to the insensitivity of the receptor to testosterone. Individuals with ais have a 46xy karyotype with testes and normal or elevated testosterone levels. Pubic and axillary hair is absent or scanty and the uterus is absent as. People with this condition are genetically male, with one x chromosome and one y chromosome in each cell. Hormone replacement treatment choices in complete androgen. Partial androgen insensitivity syndrome an overview. Complete androgen insensitivity syndrome an overview.
Apr 28, 2020 androgen insensitivity syndrome ais is an xlinked genetic disease that is commonly caused by 46, xy disorders of sex development 46, xy dsd. The prevalence of ais has been estimated to be one case in every. Complete androgen insensitivity syndrome cais is a condition that results in the complete inability of the cell to respond to androgens. The patient had immature secondary sexual characteristics, bilateral testicles in the inguinal canal, amenorrhea, and a blind vaginal pouch. Accepted on april 24th, 2019 introduction androgen insensitivity syndrome ais is a mendelian mode of inheritance xlinked disorder with an estimated incidence. 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. 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. Pdf androgen insensitivity syndrome with male sexofliving. Complete androgen insensitivity syndrome genetic and. Androgen insensitivity syndrome ieuan a hughes, john d davies, trevor i bunch, vickie pasterski, kiki mastroyannopoulou, jane macdougall androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female. Both forms are transmitted as xlinked, recessive traits, and so occur almost exclusively in genetic males. Robust breast development occurs at puberty that is due to. The diagnosis was important for proper management of the. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an xy.
The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics. On further evaluation, the karyotype was found to be 46, xy. Gender outcome in 46,xy complete androgen insensitivity syndrome. The patients mother and maternal aunt also carry the inverted x, and the mother is phenotypically normal, with a 46, invx,x karyotype, while a maternal aunt has cais with a. Pdf androgen insensitivity syndrome with male sexof. Cais is an androgen receptor defect disorder associated with vaginal and uterine agenesis in women with a 46,xy karyotype. We have studied a patient with complete androgen insensitivity syndrome cais and a 46, invx,y karyotype. Affected infants have a small phallus and a ventral chordee. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3. Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. With partial androgen insensitivity syndrome and a mutation in the androgen receptor gene. The major clinical issues surrounding this syndrome include timing of gonadectomy, hormone replacement, vaginal dilation, and attention to psychological issues. Due to technical limitations, table 1 is only available as a download.
Affected children will have an inguinal hernia before puberty or primary amenorrhea after puberty onset. Despite technological limitations, the diagnosis was confirmed by imaging, surgery, and pathology. Primary amenorrhea, complete androgen insensitivity syndrome, androgen secretion. Because provided the descriptive terms, testicular of its rarity we present. Androgen insensitivity syndrome ais is a disorder of male sexual differentiation caused by an absent or dysfunctional androgen receptor 24. Androgen insensitivity refers to a deficiency in the ability of androgen receptors to respond to androgens grumbach et al. Pdf phenotypic diversity in siblings with partial androgen. Androgen insensitivity syndrome get your full text copy. Functional analysis of six androgen receptor mutations. The fkbp4 gene, encoding a regulator of the androgen.
Complete androgen insensitivity syndrome in a 46,xy individual is characterized by phenotypically normal female external genitalia figure 92. Androgen insensitivity syndrome an overview sciencedirect. Androgen insensitivity syndrome ais is a disorder caused by a mutation of the gene encoding the androgen receptor ar. Complete androgen insensitivity syndrome with persistent mullerian. Pdf androgen insensitivity syndrome ais is a disorder caused by a mutation of the gene encoding the androgen receptor ar. 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. Design retrospective study of patients on a nationwide register of ais. New, in averys diseases of the newborn ninth edition, 2012. We evaluated psychological outcomes and gender development in 22 women with complete androgen insensitivity syndrome cais. Complete androgen insensitivity syndrome in a chinese neonate. Partial androgen insensitivity syndrome pais is a condition that results in the partial inability of the cell to respond to androgens. Objective to determine whether androgen receptors affect the fatty acid profiles of neutral and polar lipids in human meibomian gland secretions methods meibomian gland secretion samples were obtained from both eyes of 1 women with complete androgen insensitivity syndrome, a condition characterized by dysfunctional androgen receptors, and 2 agematched female and male controls. 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.
Jun 23, 2010 androgen insensitivity visuals image 1. Article information, pdf download for induced lactation in a mother through. Jun 30, 20 we report on a case of a man with familial, x. Children with the condition therefore present with a female phenotype but an absence of uterus and ovaries and, at best, a. Hughes, in williams textbook of endocrinology thirteenth edition, 2016 complete androgen insensitivity syndrome. Pathogenesis is the result of mutations in the xlinked androgen receptor gene, which encodes for the ligandactivated androgen receptora transcription. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all.
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,xy individuals. Complete androgen insensitivity syndrome cais is due to complete. This case describes presentation, diagnosis and treatment of a rare cause of pubertal gynecomastia. The syndrome is part of a group of disorders of sex development dsd. Children with the condition therefore present with a female phenotype but an absence of uterus and ovaries and, at best, a short, blindending vagina. Interview data on aspects of sex and eroticism from a sample of 10 chromosomally male xy patients with the complete testicular feminization androgen insensitivity syndrome and from a sample of 23 patients with the latetreated adrenogenital syndrome showed marked differences.
Efects of the androgen receptor ar cause the androgen insensitivity syndrome ais, an xlinked disorder in 46xy individuals with normal androgen production and metabolism. Briffa served as deputy mayor of the city of hobsons bay, victoria, between 2009 and 2011, and mayor between 20112012. Clinical, hormonal and genetic characteristics of androgen. Androgen insensitivity mcewan major reference works. Feb 27, 20 androgen insensitivity syndrome ais could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. Longterm outcome of boys with partial androgen insensitivity. Jan, 2016 androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. Partial androgen insensitivity syndrome pais covers a wide spectrum of clinical phenotypes, from patients with a predominantly female phenotype i. Adults with partial androgen insensitivity syndrome include australianmaltese advocate tony briffa, considered to be the worlds first openly intersex mayor and public officebearer. Controls included 14 males and 33 females, of whom 22 were matched to women with cais for age, race, and sexofrearing.
Complete androgen insensitivity syndrome in a chinese. Pdf androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an. Androgen insensitivity syndrome ais represents the paradigm of a clinical disorder resulting from androgen receptor ar dysfunction leading to hormone resistance. 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. Gonadectomy was performed and life long hormone replacement therapy was advised.
The clinical presentation gave us high diagnostic suspicion of androgen insensitivity syndrome. Motos guirao introductionandrogen insensitivity syndrome ais. The insensitivity can be complete cais or partial pais. Androgen insensitivity syndrome ais is an intersex condition with an estimated prevalence of about 1. The diagnosis, treatment, and management of cais also requires a multidisciplinary. The patients mother and maternal aunt also carry the inverted x, and the mother is phenotypically normal, with a 46, invx,x karyotype, while a maternal aunt has cais with a 46,invx,y karyotype. The basic etiology of androgen insensitivity syndrome ais is a mutation in the androgen receptor gene that results. Bilateral testicular tumors in androgen insensitivity syndrome. The human androgen receptor ar gene is located in the xq1112 region and exhibits 8 exons that encode a peptide of 920 aa in length. Aug 01, 2015 androgen insensitivity syndrome ais represents the paradigm of a clinical disorder resulting from androgen receptor ar dysfunction leading to hormone resistance. 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. The phenotype ranges from normal female external genitalia in the complete form. Androgen insensitivity syndrome genetic and rare diseases.
Patients have normal female external genitalia and absent mullerian duct derivatives with the presence of testes. Psychological outcomes and genderrelated development in. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization. To our knowledge, this is the first reported case of androgen insensitivity syndrome with bilateral testicular tumors. Complete androgen insensitivity syndrome due to x chromosome. Bone mineral density in women living with complete androgen. Abstract complete androgen insensitivity syndrome cais is a rare xlinked disorder with a female external phenotype. Androgen insensitivity syndrome ais is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. Complete androgen insensitivity syndrome wikipedia. Androgen insensitivity syndrome uea digital repository. In adult life cais women have a female gender identity and standard phenotype, along with a total inability to respond to androgens. Objective to study the value of measuring serum luteinising hormone lh, follicle stimulating hormone fsh, testosterone, and dihydrotestosterone dht in androgen insensitivity syndrome ais.
All individuals with ais have the 46 xy karyotype, although ais phenotypes can be classified as mild, partial or complete and can differ among. Jun 01, 2016 complete androgen insensitivity syndrome is an xlinked recessive androgen receptor disorder. Partial androgen insensitivity syndrome presenting as pubertal. The androgen insensitivity syndrome ais is a disorder of male sexual development resulting in a wide range of clinical phenotypes. Androgen insensitivity syndrome get your full text copy in. Androgen insensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to androgens. Complete androgen insensitivity syndrome in a saudi.
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon. It is characterized by female phenotype with xy karyotype. Complete androgen insensitivity syndrome cais is an xy sexual development disorder where ar function loss exists. Congenital estrogen deficiency can alternatively be caused by a defect. Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance. Ar gene, complete androgen insensitivity syndrome, case report,46xy female. Let who originated the concept of gender identity, recognized that ter to the editor. In androgen insensitivity syndrome ais, the masculinising hormones produced by the testes are unable to have an effect on the developing, genetically male 46 xy karyotype foetus. Complete androgen insensitivity syndrome syndromes.
A newborn genetic male 46xy with complete androgen insensitivity syndrome and female external genitalia image 1 image 2 5. Partial androgen insensitivity syndrome presenting with. Fetal feminization and female gender identity in the. Estrogen insensitivity syndrome eis, or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism which is caused by a defective estrogen receptor er specifically, the estrogen receptor alpha er. Pathogenesis is the result of mutations in the xlinked androgen receptor gene, which encodes for the. Assessment of the gonadotrophingonadal axis in androgen.
A person with androgen insensitivity syndrome can experience significant psychological distress secondary to the ambiguity concerning their sexual anatomy. Androgen insensitivity syndrome with inguinal testes. Induced lactation in a mother through surrogacy with complete. 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. Complete androgen insensitivity syndrome or testicular feminization. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes.
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