Complete androgen insensitivity syndrome (CAIS)

Complete Androgen-Insensitivity Syndrome (CIAS) is the disorder, in which the genetic makeup of a person is as male, with male sex chromosomes. Still, his body does not respond to the male hormones, often known as Androgens, Due to which he appears phenotypically female (having female traits) but a genetic makeup of male.

These types of males have female external genitalia and female type breasts, but they do not undergo menstruation, nor can they get pregnant.

Cause of Complete Androgen-Insensitivity Syndrome (CAIS)

This disease of no responsiveness is caused by genetic problems on the X-sex chromosome, in within the A.R gene and the body becomes unable male hormones.

Signs and Symptoms of Complete Androgen-Insensitivity Syndrome (CAIS)

Until puberty, no sign or symptom of the Complete Androgen-Insensitivity Syndrome (CAIS) is developed. All the events are almost as normal female except that the absence of menses, secondary terminal hair, and pubic hairs do not improve.

External genitalia is almost normal. Only some in cases libido and clitoris are underdeveloped. The vaginal closure depth of Complete Androgen-Insensitivity Syndrome (CAIS) affected females is measured to be 5.9cm, whereas it was estimated to be 11.1cm for unaffected women.

The gonads of such women are not similar to normal females, such as ovaries, but they have testes. During the developmental phases, the testes form due to the SRY gene on the Y chromosome, which is an independent androgen process. Still, the testes are present intra-abdominally or may be present within labia majora.

Testosterone produced from the testes of affected people could not be utilized because of CAIS. Due to the testosterone is aromatized ion estrogens hormones, which results in the formation of female phenotype.

Androgens are required for the maturity of sperms. In order to complete the spermatogenesis, therefore, in CAIS condition, the immature sperms cells (Spermatozoa) in testes do not mature, Germ cell malignancy results.

Some other differences have also been reported which includes larger hands and feet, longer limbs and relatively high stature than the normal women, large teeth, no very minimum acne, well developed and proper sized breasts.


Complete Androgen-Insensitivity Syndrome (CAIS) also leads individuals to infertility; they are not able to conceive children. This disorder is linked with decreased density in the bones of minerals which are mostly seen in women who have the disease and it is related to the time of estrogen supplementation and gonadectomy.

Gonadectomy can occur before or after puberty.

Complete Androgen-Insensitivity Syndrome (CAIS) also leads to the gonadal timer (germ cells malignancy) the risk for this disorder may increase as the age of women with CAIS increases. It is reported that 3.6% of women get disorder at 25 years of age and 33% at the age of 50 years. Only 0.8% of cases were such that they got germ cell malignancy before puberty.

In CAIS, the vaginal hypoplasia is also frequently observed, which results in sexual difficulties e.g.; vaginal penetration.

The individuals affected with CAIS are more prone to psychological disorders and need long term psychological counseling and treatments.

Lifespan of the CAIS infected people is not affected at all.

Diagnosis of Complete Androgen-Insensitivity Syndrome (CAIS)

In normal phenotype females, CAIS can only be diagnosed. It is not discoverable until puberty unless the menses do not occur. About 1-2% girls before puberty can be known to have CAIS in circumstances that they are suffering from a disorder, inguinal hernia.

The diagnosis for the CAIS or sawyer syndrome could be done by doing comparison of the karyotype with the extrarenal genital parts of foetus during ultrasonication of the pregnant female.

Human chorionic gonadotropin stimulation test, is performed which measures luteinizing hormone and testosterone in the infants with CAIS.

Complete Androgen-Insensitivity Syndrome (CAIS) is associated with the X.Y karyotype the detection of Complete-Androgen-Insensitivity Syndrome is assured if and only if the androgen receptor (AR) gene sequencing shows the mutation.AR mutation may not occur only in the 5% individuals with Complete Androgen Insensitivity Syndrome.

Treatment of Complete Androgen-Insensitivity Syndrome (CAIS)

It shows up to or about 95% of change for all androgen’s insensitivity. Basically, it is cured with hormone changing therapy and psychological help orchiectomy Is present to stop the degradation of the diseased karyotype is necessary to differentiate and under masculinized females.

By changing the whole presence in that of Y Chromosome can sexily be ensured by fluorescence in situ hybridization. Examine for either the SRY region of the Y-chromosomes or sub telemetric Y Chromosome explore. Mutation examining of the androgen receptor gene nowadays is abundant on a large scale.

It determines more than 95% of then change in gene for whole androgen-insensitivity-syndrome and half androgen-insensitivity- syndrome has two parts

1-Hormone replacement therapy

2-Psychological support for the victims with androgen-insensitivity-syndrome the quality of potential measures is an orchiectomy to prevent predicted malign anancy and degeneration in the testes.


Many victims with complete androgen syndrome have a female character. This can because of in port the patients character assignment upbringing earlier the examining or the victims desire of female characteristic at examining. Half androgen insensitivity is a more difficult issue for gender recognition. Only as the genitalia can be upward different in the case of virilization sex reorganization. 


This AR gene has been localized to the great arms and longest arms from the X Chromosome. More than a thousand such changes have been Determined with complete and half gene loss point mutation and little addition or subtraction.

These changes can cause a kind of processing problems ranging from a whole deletion of receptors on the cell surface because of half protein synthesizes to changes in substrate binding affinity. The changed substrate binding affinity due to a signal transmission loss despite proper cell surface receptors numbers.

While the genotypes causing complete androgen insensitivity or properly uniform in phenotypic reorganization the genotype or phenotype relations for the changes producing haandrogengen insensitivity syndrome lives random.

Their terminal domains codedded by exon one of the Genesee having a big no of changes. Within exon 1, CAG and GGN repeated positions are polymorphic in length. Molecular phenotyping based on 5different functional topics comprising the clinic phenotype type in most cases 70%.

Deletion of AR Process

It means that despite proper levels of androgen forming the complicated hind receptor occasion that intercede effects of hormones on tissues do not take place. This Result in the phenotype of parental under virilization of foreign gene Talia disappear genetic and alar here do not have acne and disappearance of voice changes at adult age.

In Kennedy disorder a motor neuron disease is due to a CAG in largamente in the A.R genes of androgen insensitivity rises after in life with post adult age gynecomastia stars the mostly common symptoms muscular weakness properly takes place after the rising of gynecomastia sometimes sensory problems can take place as well as less productivity.

There is an enlargement of a polymorphic tandem turn exon one of the androgen receivpatientsent.

Organizations worldwide supporting the disorder:

  • Canadian society for complete and partial androgen insensitivity syndromes & related diseases.
  •         Cure Sanfilippo foundation for CAIS and PAIS
  •         National Androgen disorders society
  •         Society for partial, mild and complete androgens insensitivity syndromes
  •         Team hormonal deficiencies foundation.

Categories/kinds Complete Androgen-Insensitivity Syndrome (CAIS)

This Syndrome is classified into two vast categories, these are given below:


The child looks like a girl because it was unable to develop the penis due to the insensitivity to male hormones, androgens.

The complete-A-I-syndrome is seen in the 1 in 20,0300 births of alive babies.


The male child lacks some of the male characteristics due to which the diseases may occur such as:

  •         One tactile or both testes fails to develop into Scutum following the birth.
  •         The urethral opening lies below the penis instead of being at the tip of penis.
  •         The male bearing PAIS may be infertile.

Clinical presentation 

Inguinal swelling in infants or the primary amenorrhea in its adolescence is the typically presented in disorder occurs in the female, her adolescent has a deformation of the breasts and the growth at puberty is declined, no menstruation occurs in such females having the complete-androgen-insensitivity-syndrome.

The sexual characteristics that are dependent on estrogen occur due to excess of aromatization of androgens. Axillary ad pubic hairs might be not present in those females if they are present, they will be in very minor amounts.

No precise diagrams and graphical presentations are not as such a demonstration of prevalence of, but the ranges are estimated based on termolecular diagnosis which are ranged from 20,400 to 99.1900 males.

It is in the infants presents labial swelling and inguinal hernia and the presence of testes in female infants (bilateral inguinal hernia is not commonly present in infant females). The estimated range for the occurrence of infancy is only about 1-2%. But it is a highly drastic disorder.


Physicians recommend the karyotyping/ biopsy after the parents allows and it is commonly done within the hernial sac of the gonads

The girls before puberty undergo the repair of inguinal hernia in complete androgen insensitivity syndrome by measuring their length of vagina.

If the vagina is short in length and the ovaries and fallopian tubes are absent, then the girl is suggested to undergo karyotyping to diagnose the disorder. Due to the action of anti mullerian hormone in males which are produced from the Sertoli cells, which are in the testis, the uterus, proximal vagina and cervix may not be present in the Complete-androgen-insensitivity-syndrome.

Vagina always has a blind-ending and varies from the normal length in the perineum. Sometimes older females having complete-androgen-insensitivity-syndrome suffer from inguinal disorders in their infant stages and they may have karyotype 46autosomes with a pair XY.

 By Chance detection

It depends on the chance that the detection of the complete-A-I-syndrome occurs. The sex of the newborn before birth is now made possible to be known before birth through karyotyping analysis which includes free fetal DNA, amniotic fluid samples, maternal circulating fluids and chronic villi, it can also be done by using 3-dimensional ultrasound and monography.

Complete-androgen-insensitivity-syndrome is in these ways diagnosed by chance as the result of parental sex prediction and phenotype mismatching at the time of birth.

The deletion of the pelvic region mass which arises from the tumor in gonads and the know-how of the families and history of X-linkage formation of complete-A-I-syndrome are the other ways for presentation of this disease.

Effect on the heights

The women that do not have Complete-A-I-syndrome are comparatively of small height than the woman who has complete-A-I-syndrome, but it is in turn shorter than the average height of the male’s population.

Those patients are also taller in which the gonadectomy is delayed. It suggests that there was a deficiency of the estrogen before gonadectomy. However, the girls having the complete-A-I-syndrome show no delay in the start of puberty than those who do not have complete androgen-insensitivity-syndrome.

The tallness in the syndrome patients is mainly caused by the part, which controls the height and growth which for the longest arm present on the Y -chromosome but there are also some loci on that chromosome which affects the normal height in adults these have been identified by genome-wide association.

Complete-A-I-syndrome in the infants have the same size which the normal male infants have; it suggests that sexual dimorphism explains the exposure of parental androgens on the factors controlling Y-chromosome.

Endocrine features

Endocrine profile of the females with complete-androgen-insensitivity-syndrome is hormone-resistant state with intact gonads development. Testosterone concentration in the blood serum is more than the normal value in adult men and as well as in the boys and the Luteinizing hormone does not significantly increase in its concentration in blood serum.

The concentrations of hormones for inhibition and the stimulation of follicles’ (FSH) hormones;

The concentrations of hormones for inhibition and those for appreciation and the stimulation of follicles and ovules in the female, (FSH) hormones; remains normal. Estrogen and luteinizing hormone combinedly contribute to the higher concentrations of estradiol in the males and it is lower in case of females without the Excess estrogen concentration is found peripherally to aromatized estrogen.

Concentration of gonadotropins;

Concentration of gonadotropins in the blood serum become higher even than the gonadectomy, but the ease for that can only be deactivated by substitution of estrogen hormones. This works as the negative feedback mechanism due to the effect of androgens on the hypothalamus and specially on the pituitary glands of hypothalamus

Concentration of the estrogen and androgens;

The concentration of the estrogen and androgens that are both sex hormones and upon binding to the globulins increase the production of hepatic whose concentration in the people with complete-A-I-syndrome is same as the females who do not contain symptoms of complete-A-I-syndrome and it also never reduces even after the administration of androgens.

If this occurs in the life of an infant, then the concentration of gonadotropins and testosterone patterns is not segmentation of the hormone resistance bailey.

Mini-puberty is the condition if, during the first few months of life the LH-induced testosterone concentrations rise from the normal ranges.

The stimulation of human chorionic gonadotropins appropriately increases the concentrations of testosterone in blood serum however, it can not be a valid profile for the diagnosis of complete A-I-syndrome in many infants.

The more responsive patterns of testosterone and luteinizing hormone occurs in the infants with both after and before the stimulation of human chorionic gonadotropins; human chorionic gonadotropins are the test which excludes the other causes responsible for the same phenotype.

Androgens effects on the hypothalamus and pituitary- axis to prime LH in the prenatal development times and the reasons for low level of testosterone in its concentrations in the young babies with complete-A-I-S is not yet found out.

The concentration of anti-Mullerian hormones;

The concentration of anti Mullerian hormones also increases in the neonatal periods of development and they are sexual of two kinds which can be also termed as dimorphic. Serum containing more concentration of anti mullerian hormones suggests the presence of testes as well as the concentration in those males is higher than in the infants.

During the puberty of male, the concentration of both hormones is inversely related to each other, but it does not remain as such during the mini-puberty at infant stages. This occurs due to the reason that Sertoli cells do not expose the receptors for androgens of the testis of infants. It causes transient androgen insensitivity during fetal and neonatal stages in Sertoli cells of testes during their development.

The insensitivity leads to the higher concentration of anti-Mullerian hormones in people with complete-androgen-insensitivity-syndrome and it is different from those which have impairment in the functioning of Sertoli cells.

Complete-A-I-syndrome, but the ranges are estimated on the basis of molecular diagnosis which ranges from 39,200 to 99,350 females.

Complete-A-I-syndrome in the infants presents labial swelling and inguinal hernia, and the presence of testes in female infantize (bilateral inguinal hernia is not commonly present in infant females) the estimated range for the occurrence of complete-androgen-insensitivity syndromes.

Other differential diagnosis methods of CAIS include several androgen biosynthesis disorders for example, vaginal septate, Makyer-Rokitgfansky-Küsteer-Hauser syndrome, and for that other Mullercian duct anomalies.

Problems in male androgen secretion

  •         Gametal deformation partially
  •         RegionY, NR52A1 and WlTI mutations
  •         Luteinizing hormones receptor mutations
  •         Deficiency of the biosynthetic enzymes
  •         Lyases enzymes deficiency
  •         P460 oxidoreductase deficiency
  •         P550 oxidoreductase deficiency
  •         Dehydrogenases enzymes deficiencies
  •         Type 2 reductases deficiency
  •         Androgen receptor genes mutation
  •         Androgen receptors growth restriction in a fetus
  •         Syndromes: Klinefelter’s, Smith-Lemli-Opitz, Dennis-es and Frascrier’s


Fertility can only occur if that sperm which amounts can be regained after regular doses of the treatment of androgen.

Testosterone and luteinizing hormone concentration’s product cause mild androgen insensitivity syndrome which presents the mutation in mild conditions and which can not be easily curated by the formal methods. This results in knockout the Sertoli cells for the formation of Leydig cells responsible for the normal spermatogenesis.

This presents the functioning of embryonic cells for the development of testicles in their early stages of prenatal forms.

Bulbar and spinal muscular atrophy can also be caused due to mild androgen insufficiency syndrome which is also termed as Kennedy’s diseases.

Patients with the disorder related to neurologic increased testosterone concentration and the weakens the lack of bullbar, facials and limbs muscles’ it is combined to the gynecomastia and reduced fertility with the androgen insensitivity of that patient is increased.

Molecular pathogenesis

The receptors of the gene in androgens are disturbed due the mis-sense in both androgen-insensitivity-syndrome, but for the localization in  the exons is variably distinct in their formation at the time of development and pose a significant impact over the encoding regions. Moreover, it features development in the order of those domains.

Genital skin fibroblast gives the expression of high concentration and it binds to the biopsy during the measurements.

The binding may be absent in the CAIS and used to identify the genomic patterns with RNA- splicing, quantifying tools and sequences development binding affinity is changed in the partial symptoms and mildest insensitivities.

Improvements in the management of CAIS

National and international level of multicenter collaboration improves the management and diagnosis of all the XY in those which are disorders which includes both partial and complete androgen-insensitivity-syndromes. The European registrar is concerned with the actions of androgens.

Management of Complete Androgen-Insensitivity Syndrome (CAIS)

There are some areas in the management of malfunctioning of AR that is gene which codes for the receptor’s protein for androgens, these areas include;

  •         Sex assessment and sexual study
  •         Genioplastyka
  •         Hormone-replacement therapy also named HR therapy.
  •         Gonadectomy
  •         Awareness of genes and psyche

Sex assessment and sexual study

Children having this-syndrome are phenotypically women, but they contain XY sex chromosomes.


It can be done by using pressure dilation methods that are non-surgical. It is a noninvasive and highly successful method of treating the disorder.

The stretching of the vaginal wall is done by dilation, but it is a complicated and most critical way of achieving satisfactory results. That’s why the non-operative method is much more appreciated and used due to its less risk, and it stretches the tissue of the vagina into a functional vagina. This method can not be used before puberty.

Hormone replacement therapy

Progesterone hormone replacement is recommended syndrome. Moreover, the replacement of androgens is also appreciated. It is thought to increase the benefit especially to the diseased bearing females.

Genetic and psychological counseling

The finding out of complete-androgen-insensitivity-syndrome cannot remain hidden from a family from a patient for a long time. Parents of the victim may need proper counseling for the prevention and curation of the disease the parents of young children are conscious about the disorder than the adult ones, but the fact is they genetic and psychological counseling plays a very important role in the prevention OR cure of complete-androgen-insensitivity-syndrome.

After counseling the physician may start the proper treatment of the affected patient as soon as possible.


Complete Androgen-Insensitivity Syndrome (CAIS) is the disorder in which the genetic makeup of a person is as male, with male sex chromosomes, but his body do not respond to the male hormones. As we know if a sperm fertilizes to an egg this fertilized egg sex chromosomes responsible for the indication of gender.

If this zygote has two sex chromosomes, then the new born female in gender. First it was known as testicular female characteristic basically it was caused by linked recessive type which is disorder of micellization of foreign gene Talia male individuals.

This disorder virilization may be whole androgen insensitivity disease are half androgen insensitivity disease.

It is caused due to androgen acceptor gene hence loss of accepter on the cell surface because discontinuous protein formation.

Kennedy syndrome a motor neuron syndrome caused by a cag that even appears later after years in life muscular weakness often occurs due to genomic Comasina Kennedy diseases or greater than those people without androgen-insensitivity-syndrome. 


Leave a Comment