Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the
cell
Cell most often refers to:
* Cell (biology), the functional basic unit of life
Cell may also refer to:
Locations
* Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery ...
's ability to respond to
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 ...
s.
The degree of impairment is sufficient to impair
spermatogenesis
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. This process starts with the mitotic division of the stem cells located close to the basement membrane of the tubule ...
and / or the development of
secondary sexual characteristics
Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals. These characteristics are particularly evident in the sexually dimorphic phenotypic traits that distinguish the sexes of a sp ...
at
puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction. It is initiated by hormonal signals from the brain to the gonads: the ovaries in a girl, the testes in a boy. ...
in males, but does not affect
genital differentiation or
development
Development or developing may refer to:
Arts
*Development hell, when a project is stuck in development
*Filmmaking, development phase, including finance and budgeting
*Development (music), the process thematic material is reshaped
* Photograph ...
. Female genital and sexual development is not significantly affected by the insensitivity to androgens;
as such, MAIS is only diagnosed in males.
The clinical
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
associated with MAIS is a normal
male habitus with mild
spermatogenic
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. This process starts with the mitotic division of the stem cells located close to the basement membrane of the tubule ...
defect and / or reduced secondary
terminal hair
In humans, terminal hair is a variant of hair that is thick and long such as what grows on the scalp, as compared with vellus hair, colloquially known as peach fuzz, growing elsewhere.Marks, James G; Miller, Jeffery (2006)''Lookingbill and Ma ...
.
MAIS is one of three types of
androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction.
It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial o ...
, which is divided into three categories that are differentiated by the degree of
genital masculinization:
complete androgen insensitivity syndrome
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals ...
(CAIS) is indicated when the external genitalia is phenotypically female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is phenotypically male, and
partial androgen insensitivity syndrome
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the Eukaryote#Animal cell, cell to respond to androgens. It is an X linked recessive condition. The partial unresponsiveness of the cell to the ...
(PAIS) is indicated when the external genitalia is partially, but not fully masculinized.
Androgen insensitivity syndrome is the largest single entity that leads to 46,XY
undermasculinization.
Signs and symptoms
Individuals with mild (or minimal) androgen insensitivity syndrome (grade 1 on the
Quigley scale
The Quigley scale is a descriptive, visual system of phenotypic grading that defines seven classes between "fully masculinized" and "fully feminized" genitalia. It was proposed by pediatric endocrinologist Charmian A. Quigley et al. in 1995. It is ...
) are born
phenotypically
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
male, with fully
masculinized
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens.
Virilization is most commonly used in three medical and biology ...
genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a
46,XY karyotype is great enough to impair
virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens.
Virilization is most commonly used in three medical and biology ...
or
spermatogenesis
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. This process starts with the mitotic division of the stem cells located close to the basement membrane of the tubule ...
, but is not great enough to impair normal male genital development.
MAIS is the mildest and least known form of androgen insensitivity syndrome.
The existence of a variant of androgen insensitivity that solely affected
spermatogenesis
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. This process starts with the mitotic division of the stem cells located close to the basement membrane of the tubule ...
was theoretical at first.
Cases of phenotypically normal males with
isolated spermatogenic defect due to AR mutation were first detected as the result of
male infertility
Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans it accounts for 40–50% of infertility. It affects approximately 7% of all men. Male infertility is commonly due to deficiencies in the semen, ...
evaluations.
Until then, early evidence in support of the existence of MAIS was limited to cases involving a mild defect in
virilization
Virilization or masculinization is the biological development of adult male characteristics in young males or females. Most of the changes of virilization are produced by androgens.
Virilization is most commonly used in three medical and biology ...
,
although some of these early cases made allowances for some degree of impairment of
genital masculinization, such as
hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting abou ...
or
micropenis
Micropenis is an unusually small penis. A common criterion is a dorsal (measured on top) penile length of at least 2.5 standard deviations smaller than the mean human penis size (stretched penile length less than 9.3 cm (3.67 in) in adults). ...
.
It is estimated that 2-3% of infertile men have AR gene mutations.
It's also estimated that MAIS is responsible for 40% of male infertility.
Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia),
mild
gynecomastia
Gynecomastia (also spelled gynaecomastia) is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. Updated by Brent Wisse (1 ...
in young adulthood, decreased
secondary
Secondary may refer to: Science and nature
* Secondary emission, of particles
** Secondary electrons, electrons generated as ionization products
* The secondary winding, or the electrical or electronic circuit connected to the secondary winding i ...
terminal hair
In humans, terminal hair is a variant of hair that is thick and long such as what grows on the scalp, as compared with vellus hair, colloquially known as peach fuzz, growing elsewhere.Marks, James G; Miller, Jeffery (2006)''Lookingbill and Ma ...
, high pitched voice, or minor
hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting abou ...
repair in childhood.
The
external male genitalia (
penis
A penis (plural ''penises'' or ''penes'' () is the primary sexual organ that male animals use to inseminate females (or hermaphrodites) during copulation. Such organs occur in many animals, both vertebrate and invertebrate, but males do n ...
,
scrotum
The scrotum or scrotal sac is an anatomical male reproductive structure located at the base of the penis that consists of a suspended dual-chambered sac of skin and smooth muscle. It is present in most terrestrial male mammals. The scrotum cont ...
, and
urethra
The urethra (from Greek οὐρήθρα – ''ourḗthrā'') is a tube that connects the urinary bladder to the urinary meatus for the removal of urine from the body of both females and males. In human females and other primates, the urethra con ...
) are otherwise normal in individuals with MAIS.
Internal genitalia
A sex organ (or reproductive organ) is any part of an animal or plant that is involved in sexual reproduction. The reproductive organs together constitute the reproductive system. In animals, the testis in the male, and the ovary in the female, a ...
, including
Wolffian structures
The mesonephric duct (also known as the Wolffian duct, archinephric duct, Leydig's duct or nephric duct) is a paired organ that forms during the embryonic development of humans and other mammals and gives rise to male reproductive organs.
Stru ...
(the
epididymides,
vasa deferentia
The vas deferens or ductus deferens is part of the male reproductive system of many vertebrates. The ducts transport sperm from the epididymis to the ejaculatory ducts in anticipation of ejaculation. The vas deferens is a partially coiled tube w ...
, and
seminal vesicles
The seminal vesicles (also called vesicular glands, or seminal glands) are a pair of two convoluted tubular glands that lie behind the urinary bladder of some male mammals. They secrete fluid that partly composes the semen.
The vesicles are 5 ...
) and the
prostate
The prostate is both an Male accessory gland, accessory gland of the male reproductive system and a muscle-driven mechanical switch between urination and ejaculation. It is found only in some mammals. It differs between species anatomically, ...
, is also normal, although the
bitesticular volume of infertile men (both with and without MAIS) is diminished;
male infertility
Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans it accounts for 40–50% of infertility. It affects approximately 7% of all men. Male infertility is commonly due to deficiencies in the semen, ...
is associated with reduced bitesticular volume,
varicocele
varicocele is an abnormal enlargement of the pampiniform venous plexus in the scrotum. This plexus of veins drains blood from the testicles back to the heart. The vessels originate in the abdomen and course down through the inguinal canal as part ...
,
retractile testes, low
ejaculate volume,
male accessory gland
Male accessory glands (MAG) in humans are the seminal vesicles, prostate gland, and the bulbourethral glands (also called Cowper's glands).
In insects, male accessory glands produce products that mix with the sperm to protect and preserve them, in ...
infections (MAGI), and
mumps
MUMPS ("Massachusetts General Hospital Utility Multi-Programming System"), or M, is an imperative, high-level programming language with an integrated transaction processing key–value database. It was originally developed at Massachusetts Gener ...
orchitis
Orchitis is inflammation of the testes. It can also involve swelling, pains and frequent infection, particularly of the epididymis, as in epididymitis. The term is from the Ancient Greek ὄρχις meaning "testicle"; same root as ''orchid''.
S ...
.
The incidence of these features in infertile men with MAIS is similar to that of infertile men without MAIS.
MAIS is not associated with
Müllerian remnants.
Spinal and bulbar muscular atrophy
Spinal and bulbar muscular atrophy
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cor ...
(SBMA), also known as Kennedy's disease, is a severe
neurodegenerative
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic ...
syndrome that is associated with a particular mutation of the
androgen receptor
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone in th ...
's
polyglutamine tract A polyglutamine tract or polyQ tract is a portion of a protein consisting of a sequence of several glutamine units. A tract typically consists of about 10 to a few hundred such units.
A multitude of genes, in various eukaryotic species (including h ...
called a
trinucleotide repeat expansion
A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in dynamical genetics as dynamic muta ...
.
SBMA results when the length of the polyglutamine tract exceeds 40 repetitions.
Although technically a variant of MAIS, SBMA's presentation is not typical of androgen insensitivity; symptoms do not occur until adulthood and include
neuromuscular
A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber.
It allows the motor neuron to transmit a signal to the muscle fiber, causing muscle contraction.
Muscles require innervation t ...
defects as well as signs of androgen inaction.
Neuromuscular symptoms include progressive proximal muscle weakness,
atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy the gene to build up the organ), poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply t ...
, and
fasciculations
A fasciculation, or muscle twitch, is a spontaneous, involuntary muscle contraction and relaxation, involving fine muscle fibers. They are common, with as many as 70% of people experiencing them. They can be benign, or associated with more serio ...
. Symptoms of androgen insensitivity experienced by men with SBMA are also progressive
and include testicular atrophy, severe
oligospermia
Terms oligospermia, oligozoospermia, and low sperm count refer to semen with a low concentration of sperm and is a common finding in male infertility. Often semen with a decreased sperm concentration may also show significant abnormalities in sperm ...
or
azoospermia
Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with male infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population and may be seen ...
,
gynecomastia
Gynecomastia (also spelled gynaecomastia) is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. Updated by Brent Wisse (1 ...
, and feminized skin changes
despite elevated androgen levels.
Disease onset, which usually affects the
proximal
Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position pro ...
musculature first, occurs in the third to fifth decades of life, and is often preceded by muscular cramps on exertion, tremor of the hands, and elevated muscle
creatine kinase
Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme () expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phosp ...
.
SBMA is often misdiagnosed as
amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...
(ALS) (also known as Lou Gehrig's disease).
The symptoms of SBMA are thought to be brought about by two simultaneous pathways involving the toxic
misfolding
Protein folding is the physical process by which a protein chain is Translation (biology), translated to its native protein tertiary structure, three-dimensional structure, typically a "folded" Protein structure, conformation by which the prote ...
of proteins and loss of AR functionality.
The polyglutamine tract in affected pedigrees tends to increase in length over generations, a phenomenon known as "
anticipation
Anticipation is an emotion involving pleasure or anxiety in considering or awaiting an expected event. Anticipatory emotions include fear, anxiety, hope and trust. When the anticipated event fails to occur, it results in disappointment (if posi ...
",
leading to an increase in the severity of the disease as well as a decrease in the age of onset for each subsequent generation of a family affected by SBMA.
Comorbidity
All forms of androgen insensitivity are associated with
infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state ...
, though exceptions have been reported for both the mild and partial forms.
Lifespan is not thought to be affected by AIS.
Trinucleotide satellite lengths and AR transcriptional activity
The
androgen receptor
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone in th ...
gene contains two
polymorphic trinucleotide microsatellites
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. ...
in exon 1.
The first microsatellite (nearest the
5' end) contains 8
to 60
repetitions of the
glutamine
Glutamine (symbol Gln or Q) is an α-amino acid that is used in the biosynthesis of proteins. Its side chain is similar to that of glutamic acid, except the carboxylic acid group is replaced by an amide. It is classified as a charge-neutral, ...
codon
The genetic code is the set of rules used by living cells to translate information encoded within genetic material ( DNA or RNA sequences of nucleotide triplets, or codons) into proteins. Translation is accomplished by the ribosome, which links ...
"CAG" and is thus known as the
polyglutamine tract A polyglutamine tract or polyQ tract is a portion of a protein consisting of a sequence of several glutamine units. A tract typically consists of about 10 to a few hundred such units.
A multitude of genes, in various eukaryotic species (including h ...
.
The second microsatellite contains 4
to 31
repetitions of the
glycine
Glycine (symbol Gly or G; ) is an amino acid that has a single hydrogen atom as its side chain. It is the simplest stable amino acid (carbamic acid is unstable), with the chemical formula NH2‐ CH2‐ COOH. Glycine is one of the proteinogeni ...
codon "GGC" and is known as the
polyglycine tract.
The average number of repetitions varies by ethnicity, with Caucasians exhibiting an average of 21 CAG repeats, and Blacks 18.
Disease states are associated with extremes in polyglutamine tract length;
prostate cancer
Prostate cancer is cancer of the prostate. Prostate cancer is the second most common cancerous tumor worldwide and is the fifth leading cause of cancer-related mortality among men. The prostate is a gland in the male reproductive system that sur ...
,
hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide.
It occurs in t ...
,
and
intellectual disabilities
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...
are associated with too few repetitions, while
spinal and bulbar muscular atrophy
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cor ...
(SBMA) is associated with a CAG repetition length of 40 or more.
Some studies indicate that the length of the polyglutamine tract is inversely correlated with
transcriptional activity in the AR protein, and that longer polyglutamine tracts may be associated with
infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state ...
and
undermasculinized genitalia.
However, other studies have indicated that no such correlation exists.
A comprehensive
meta-analysis
A meta-analysis is a statistical analysis that combines the results of multiple scientific studies. Meta-analyses can be performed when there are multiple scientific studies addressing the same question, with each individual study reporting me ...
of the subject published in 2007 supports the existence of the correlation, and concluded that these discrepancies could be resolved when
sample size
Sample size determination is the act of choosing the number of observations or Replication (statistics), replicates to include in a statistical sample. The sample size is an important feature of any empirical study in which the goal is to make stat ...
and study design are taken into account.
Longer polyglycine tract lengths have also been associated with genital masculinization defects in some,
but not all,
studies.
Diagnosis
MAIS is only diagnosed in normal phenotypic males, and is not typically investigated except in cases of
male infertility
Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans it accounts for 40–50% of infertility. It affects approximately 7% of all men. Male infertility is commonly due to deficiencies in the semen, ...
.
MAIS has a mild presentation that often goes unnoticed and untreated;
even with semenological, clinical and laboratory data, it can be difficult to distinguish between men with and without MAIS, and thus a diagnosis of MAIS is not usually made without confirmation of an
AR gene mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
.
The
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 ...
sensitivity index (ASI), defined as the product of
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) ...
(LH) and
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 ...
(T), is frequently raised in individuals with all forms of AIS, including MAIS, although many individuals with MAIS have an ASI in the normal range.
Testosterone levels may be elevated despite normal levels of luteinizing hormone.
Conversion of testosterone (T) to
dihydrotestosterone
Dihydrotestosterone (DHT, 5α-dihydrotestosterone, 5α-DHT, androstanolone or stanolone) is an endogenous androgen sex steroid and hormone. The enzyme 5α-reductase catalyzes the formation of DHT from testosterone in certain tissues includi ...
(DHT) may be impaired, although to a lesser extent than is seen in
5α-reductase deficiency
5α-Reductases, also known as 3-oxo-5α-steroid 4-dehydrogenases, are enzymes involved in steroid metabolism. They participate in three metabolic pathways: bile acid biosynthesis, androgen and estrogen metabolism. There are three isozymes of ...
.
A high ASI in a normal phenotypic male,
especially when combined with
azoospermia
Azoospermia is the medical condition of a man whose semen contains no sperm. It is associated with male infertility, but many forms are amenable to medical treatment. In humans, azoospermia affects about 1% of the male population and may be seen ...
or
oligospermia
Terms oligospermia, oligozoospermia, and low sperm count refer to semen with a low concentration of sperm and is a common finding in male infertility. Often semen with a decreased sperm concentration may also show significant abnormalities in sperm ...
,
decreased
secondary
Secondary may refer to: Science and nature
* Secondary emission, of particles
** Secondary electrons, electrons generated as ionization products
* The secondary winding, or the electrical or electronic circuit connected to the secondary winding i ...
terminal hair
In humans, terminal hair is a variant of hair that is thick and long such as what grows on the scalp, as compared with vellus hair, colloquially known as peach fuzz, growing elsewhere.Marks, James G; Miller, Jeffery (2006)''Lookingbill and Ma ...
,
and/or impaired conversion of T to DHT,
can be indicative of MAIS, and may warrant
genetic testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
.
Management
Due to its mild presentation, MAIS often goes unnoticed and untreated.
Management of MAIS is currently limited to
symptomatic management; methods to correct a malfunctioning
androgen receptor
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone in th ...
protein that result from an AR gene
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
are not currently available. Treatment includes surgical correction of mild
gynecomastia
Gynecomastia (also spelled gynaecomastia) is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. Updated by Brent Wisse (1 ...
, minor
hypospadias
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting abou ...
repair, and
testosterone supplementation.
Supraphysiological doses of testosterone have been shown to correct diminished
secondary sexual characteristics
Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals. These characteristics are particularly evident in the sexually dimorphic phenotypic traits that distinguish the sexes of a sp ...
in men with MAIS,
as well as to reverse
infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state ...
due to low sperm count.
As is the case with PAIS, men with MAIS will experience side effects from
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 ...
therapy (such as the suppression of the
hypothalamic-pituitary-gonadal axis) at a higher dosage than unaffected men. Careful monitoring is required to ensure the safety and efficacy of treatment.
Regular
breast
The breast is one of two prominences located on the upper ventral region of a primate's torso. Both females and males develop breasts from the same embryological tissues.
In females, it serves as the mammary gland, which produces and secret ...
and
prostate
The prostate is both an Male accessory gland, accessory gland of the male reproductive system and a muscle-driven mechanical switch between urination and ejaculation. It is found only in some mammals. It differs between species anatomically, ...
examinations may be necessary due to
comorbid
In medicine, comorbidity - from Latin morbus ("sickness"), co ("together"), -ity (as if - several sicknesses together) - is the presence of one or more additional conditions often co-occurring (that is, concomitant or concurrent) with a primary c ...
association with
breast
The breast is one of two prominences located on the upper ventral region of a primate's torso. Both females and males develop breasts from the same embryological tissues.
In females, it serves as the mammary gland, which produces and secret ...
and
prostate
The prostate is both an Male accessory gland, accessory gland of the male reproductive system and a muscle-driven mechanical switch between urination and ejaculation. It is found only in some mammals. It differs between species anatomically, ...
cancers.
References
External links
{{DEFAULTSORT:Androgen Insensitivity Syndrome
Syndromes
Transcription factor deficiencies
Intersex variations