Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. While there is no cure for Naegeli syndrome, treatment is based on each individual's symptoms.

Etiology NFJ is inherited as an autosomal dominant condition and is caused by mutations in the KRT14 gene (17q11.2-17q21) encoding keratin 14.

Naegeli–Franceschetti–Jadassohn syndrome Other names Chromatophore nevus of Naegeli Naegeli–Franceschetti–Jadassohn syndrome has an autosomal dominant pattern of inheritance Naegeli–Franceschetti–Jadassohn syndrome ( NFJS ), also known as chromatophore nevus of Naegeli and Naegeli syndrome , [1] [2] is a rare autosomal dominant [3] form of ectodermal dysplasia , characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. ... Contents 1 Cause 2 Diagnosis 3 Treatment 4 Eponym 5 See also 6 References 7 External links Cause [ edit ] NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21 . [3] [5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. [ citation needed ] Diagnosis [ edit ] In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. ... "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14" . American Journal of Human Genetics . 79 (4): 724–30. doi : 10.1086/507792 .

The disorder can make it more difficult or impossible for affected individuals to perform manual tasks such as preparing food, writing, or playing musical instruments. Dupuytren contracture often first occurs in only one hand, affecting the right hand twice as often as the left. About 80 percent of affected individuals eventually develop features of the condition in both hands. Dupuytren contracture typically first appears as one or more small hard nodules that can be seen and felt under the skin of the palm.

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability.

Cardiomyopathy of hypertrophic type dominated the clinical picture. Histologically, abnormality of mitochondria and storage of lipid and glycogen were found in both skeletal and heart muscle. ... The patients had bilateral and total cataract in the first weeks of life, underwent cataract surgery, and developed nystagmus and strabismus. ... A second unrelated infant, born of consanguineous Pakistani parents, developed respiratory distress and circulatory failure in the first hour of life, associated with severe metabolic lactic acidosis. ... The most severely affected patient was a boy who presented in the first weeks of life with congenital cataracts, hypotonia, decompensated massive cardiomyopathy, and tachydyspnea associated with increased serum lactate. ... Pathogenesis While several pieces of evidence pointed indirectly to the involvement of oxygen free radicals in the etiology of cardiomyopathy with cataracts, direct evidence was provided for the first time by Luo et al. (1997) who showed that complex I deficiency is associated with an excessive production of hydroxyl radicals and lipid peroxidation.

Approximately half of the patients die within the first year of life due to cardiac failure. ... Prognosis Approximately half of the reported patients die in the first year of life due to cardiac failure.

Hypertrophic cardiomyopathy is diagnosed at birth in half. Death in the first year is usually due to cardiac failure . ... Prognosis [ edit ] About half the patients die within the first year of life. Because of its rarity the prognosis for the chronic form is not well established but survival into adulthood has been reported. ... About 40 cases have been reported worldwide. [ citation needed ] History [ edit ] This condition was first described in 1975. [1] References [ edit ] ^ Sengers RCA, ter Haar, BGA, Trijbels JMF, Willems JL, Daniels O, Stadhouders AM (1975) Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise.

In most cases, hereditary pancreatitis is due to a PRSS1 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, a clinical history and exam, and the results of genetic testing.

A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. ... Mutation in the PRSS1 gene is transmitted in an autosomal dominant manner with incomplete penetrance.

Four other families had been reported from the Mayo Clinic, including the first reported example by Comfort and Steinberg (1952). ... Lewis and Gazet (1993) reported pancreatitis in members of 4 successive generations of a second English family. A male in each of the first generations had a combination of calcific pancreatitis and pancreatic carcinoma. Rumenapf et al. (1994) stated that more than 50 families of hereditary pancreatitis had been reported since the first description by Comfort and Steinberg (1952). ... The hypothesis that pancreatitis results from inappropriate activation of pancreatic proenzymes was first promulgated by Chiara (1896) and subsequently demonstrated to be an experimental model for pancreatitis (Steer and Meldolesi, 1987). ... In affected members of 2 unrelated families with autosomal dominant chronic pancreatitis, Kiraly et al. (2007) identified a heterozygous mutation in the SPINK1 gene (L14R; 167790.0006).

Learn more about the genes associated with Hereditary pancreatitis CFTR PRSS1 Additional Information from NCBI Gene: CTRC SPINK1 Inheritance Pattern When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Contents 1 Symptoms 2 Cause 3 Genetics 4 Diagnosis 5 Treatment 6 Animal models 7 References 8 External links Symptoms [ edit ] In undiagnosed and untreated children, the accumulation of precursor metabolites due to the deficient activity of galactose 1-phosphate uridylyltransferase (GALT) can lead to feeding problems, failure to thrive , liver damage, bleeding, and infections. The first presenting symptom in an infant is often prolonged jaundice . ... After the ingestion of lactose, most commonly from breast milk for an infant or cow milk and any milk from an animal, the enzyme lactase hydrolyzes the sugar into its monosaccharide constituents, glucose and galactose. In the first step of galactose metabolism, galactose is converted to galactose-1-phosphate (Gal-1-P) by the enzyme galactokinase .

Sequence analysis of GALE is performed first followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here. 4. Whole-gene sequencing has revealed ostensibly causal GALE variants in most persons with biochemically confirmed GALE deficiency who have been studied (e.g., Park et al [2005], Openo et al [2006], reviewed in Fridovich-Keil & Walter [2008]); however due to the small number of alleles studied and the biochemical complexity of the diagnosis this estimate may change with time. 5. ... If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. ... As in classic galactosemia, if a lactose-restricted diet is provided during the first days of life, the severe acute neonatal complications are usually prevented.

A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology Global prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected. Clinical description When ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia).

Overview A vaginal fistula is an unusual opening that develops between the vagina and another organ, such as the bladder, colon or rectum. Your health care provider might describe a vaginal fistula as a hole in the vagina that allows urine, gas or stool to pass through the vagina. Vaginal fistulas can develop after childbirth, an injury, a surgery, an infection or radiation treatment. You may need surgery to fix a fistula. There are several types of vaginal fistulas. They are named based on the location and organs they affect: Vesicovaginal fistula.

A number sign (#) is used with this entry because COACH syndrome, which classically comprises cerebellar vermis hypo/aplasia, oligophrenia (mental retardation), ataxia, ocular coloboma, and hepatic fibrosis, is most commonly associated with compound heterozygous mutation in the TMEM67 gene (609884) on chromosome 8q22. Joubert syndrome-6 (JBTS6; 610688) and Meckel syndrome type 3 (MKS3; 607361) are allelic disorders with overlapping phenotypes. Less commonly, COACH syndrome is caused by mutation in other Joubert-associated genes, including CC2D2A (612013) and RPGRIP1L (610937). Description COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see 213300) with congenital hepatic fibrosis.

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Epidemiology Prevalence is unknown. Clinical description The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis (NPH), but these are not mandatory features. Etiology Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). Genetic counseling Transmission is autosomal recessive.

COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems ( fibrosis ), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma ) or abnormal eye movements (such as nystagmus). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome .

A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).

Non-consensual interventions are still often performed, although general awareness on the resulting psychological traumatization is rising. [80] Sex assignment and sexuality [ edit ] Most individuals with CAIS are raised as females. [1] They are born phenotypically female and usually have a heterosexual female gender identity ; [41] [81] However, at least two case studies have reported male gender identity in individuals with CAIS. [81] [82] Vaginal length in 8 women with CAIS before and after dilation therapy as first line treatment. The normal reference range (shaded) is derived from 20 control women. Duration and extent of therapy varied; the median time to completion of treatment was 5.2 months, and the median number of 30-minute dilations per week was 5. [23] Dilation therapy [ edit ] Most cases of vaginal hypoplasia associated with CAIS can be corrected using non-surgical pressure dilation methods. [23] [25] The elastic nature of vaginal tissue, as demonstrated by its ability to accommodate the differences in size between a tampon , a penis, and a baby's head, [83] make dilation possible even in cases when the vaginal depth is significantly compromised. [23] [25] Treatment compliance is thought to be critical to achieve satisfactory results. [21] [23] [25] Dilation can also be achieved via the Vecchietti procedure , which stretches vaginal tissues into a functional vagina using a traction device that is anchored to the abdominal wall , subperitoneal sutures , and a mold that is placed against the vaginal dimple. [25] Vaginal stretching occurs by increasing the tension on the sutures, which is performed daily. [25] The non-operative pressure dilation method is currently recommended as the first choice, since it is non-invasive , and highly successful. [25] Vaginal dilation should not be performed before puberty . [34] Gonadectomy [ edit ] While it is often recommended that women with CAIS eventually undergo gonadectomy to mitigate cancer risk, [1] there are differing opinions regarding the necessity and timing of gonadectomy. [84] The risk of malignant germ cell tumors in women with CAIS increases with age and has been estimated to be 3.6% at 25 years and 33% at 50 years. [67] However, only three cases of malignant germ cell tumors in prepubescent girls with CAIS have been reported in the last 100 years. [65] The youngest of these girls was 14 years old. [85] If gonadectomy is performed early, then puberty must be artificially induced using gradually increasing doses of estrogen . [1] If gonadectomy is performed late, then puberty will occur on its own, due to the aromatization of testosterone into estrogen . [1] At least one organization, the Australasian Paediatric Endocrine Group, classifies the cancer risk associated with CAIS as low enough to recommend against gonadectomy, although it warns that the cancer risk is still elevated above the general population, and that ongoing cancer monitoring is essential. [84] Some choose to perform gonadectomy if and when inguinal hernia presents. [1] Estrogen replacement therapy is critical to minimize bone mineral density deficiencies later in life. [61] [63] Hormone replacement therapy [ edit ] Some have hypothesized that supraphysiological levels of estrogen may reduce the diminished bone mineral density associated with CAIS. [61] Data has been published that suggests affected women who were not compliant with estrogen replacement therapy, or who had a lapse in estrogen replacement, experienced a more significant loss of bone mineral density. [60] [61] Progestin replacement therapy is seldom initiated, due to the absence of a uterus . [1] Androgen replacement has been reported to increase a sense of well-being in gonadectomized women with CAIS, although the mechanism by which this benefit is achieved is not well understood. [1] Counseling [ edit ] It is no longer common practice to hide a diagnosis of CAIS from the affected individual or her family. [18] Parents of children with CAIS need considerable support in planning and implementing disclosure for their child once the diagnosis has been established. [1] [18] For parents with young children, information disclosure is an ongoing, collaborative process requiring an individualized approach that evolves in concordance with the child's cognitive and psychological development . [1] In all cases, the assistance of a psychologist experienced in the subject is recommended. [1] [18] Neovaginal construction [ edit ] Vaginal expander ZSI 200 NS ZSI 200 NS vaginal expander stretching the female vagina Many surgical procedures have been developed to create a neovagina , as none of them is ideal. [25] Surgical intervention should only be considered after non-surgical pressure dilation methods have failed to produce a satisfactory result. [25] Neovaginoplasty can be performed using skin grafts , a segment of bowel , ileum , peritoneum , an absorbable adhesion barrier (Interceed, made by Johnson & Johnson ), [86] [87] buccal mucosa , amnion , dura mater . [25] [88] [89] or with the support of vaginal stents/expanders . [90] [91] Success of such methods should be determined by sexual function , and not just by vaginal length, as has been done in the past. [89] Ileal or cecal segments may be problematic because of a shorter mesentery , which may produce tension on the neovagina, leading to stenosis . [89] The sigmoid neovagina is thought to be self-lubricating, without the excess mucus production associated with segments of small bowel . [89] Vaginoplasty may create scarring at the introitus (the vaginal opening), which requires additional surgery to correct. ... Epidemiology [ edit ] It is estimated that CAIS occurs in 1 in 20,400 to 1 in 99,000 individuals with a 46,XY karyotype. [93] [94] Nomenclature [ edit ] Main article: Other names for androgen insensitivity syndrome Historically, CAIS has been referred to in the literature under a number of other names, including testicular feminization [syndrome] (deprecated) and Morris syndrome. [95] [96] PAIS has also been referred to as Reifenstein syndrome, which should not be confused with CAIS. [95] [96] History [ edit ] The first definitive description of CAIS was reported in 1817. [97] [98] The condition became more widely known after it was reviewed and named testicular feminization by American gynecologist John McLean Morris in 1953. [98] People with CAIS [ edit ] Georgiann Davis [99] Seven Graham [100] See also [ edit ] Complete estrogen insensitivity syndrome References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Hughes IA, Deeb A (December 2006). ... "The use of three-dimensional ultrasound for fetal gender determination in the first trimester". Br J Radiol . 76 (907): 448–51. doi : 10.1259/bjr/13479830 . ... External links [ edit ] Classification D ICD - 10 : E34.51 ICD - 9-CM : 259.51 OMIM : 312300 300068 MeSH : D013734 DiseasesDB : 29662 External resources eMedicine : ped/2222 GeneReviews : Androgen Insensitivity Syndrome Orphanet : 99429 Information An Australian parent/patient booklet on CAIS (archived) The Secret of My Sex news article Women With Male DNA All Female news article at ABCnews.com v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld

Evaluation of relatives at risk: For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known AR variant in the family can be pursued next. ... Radiology findings in the "predominantly male" phenotype (Table 2) including impaired development of the prostate and of the wolffian duct derivatives demonstrated by ultrasonography or genitourography Supportive laboratory findings Normal 46,XY karyotype Evidence of normal or increased synthesis of testosterone (T) by the testes Evidence of normal conversion of testosterone to dihydrotestosterone (DHT) Evidence of normal or increased luteinizing hormone (LH) production by the pituitary gland In CAIS, but not in PAIS: possible reduction in postnatal (0-3 months) surge in serum LH and serum T concentrations [Bouvattier et al 2002] In the "predominantly male" phenotype (Table 2): Less than normal decline of sex hormone-binding globulin in response to a standard dose of the anabolic androgen, stanozolol [Sinnecker et al 1997] Higher than normal levels of anti-müllerian hormone during the first year of life or after puberty has begun Establishing the Diagnosis The diagnosis of AIS is established in a 46,XY proband with: Undermasculinization of the external genitalia, impaired spermatogenesis with otherwise normal testes, absent or rudimentary müllerian structures, evidence of normal or increased synthesis of testosterone and its normal conversion to dihydrotestosterone, and normal or increased LH production by the pituitary gland; AND/OR A hemizygous pathogenic variant in AR identified by molecular genetic testing (see Table 1). ... Sequence analysis of AR is performed first. Gene targeted deletion/duplication analysis to detect multiexon or whole-gene deletions or duplications may be considered if a pathogenic variant in AR is not identified by sequence analysis. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation requires additional testing by gene-targeted deletion/duplication analysis. 5. androgendb ​.mcgill.ca; www ​.hgmd.cf.ac.uk 6.

Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. Epidemiology The estimated incidence is between 1/20,000 and 1/99,000 live male births. Clinical description The typical presentation is primary amenorrhea in an adolescent female. CAIS may also present in infancy or childhood with an inguinal hernia or labial swelling containing a testis. Breast development at puberty is normal, but pubic and axillary hair is absent or scanty.

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. 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 female sexual development. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile).

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.