Testicular feminization syndrome. Medical search. Frequent questions

mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)
Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)
The most severe of these syndromes has been referred to as testicular feminization where the external genitalia are female. (thenewjerseymaleinfertilitycenter.com)

17. Gülekli B, Özakşit G, Turhan N, Şenöz S, Gökmen O: Tamoxifene: An altematıve approach in clomiphene resistant polycystic ovarian syndrome patients. (oyagokmen.com)
This treatment helps to differentiate testicular feminization mullerian duct defect polycystic ovary syndrome. (albionfoundation.org)
Absent or irregular menstrual periods in the setting of normal or high estradiol levels indicate possible polycystic ovarian syndrome, androgen-producing tumors, or estrogen-producing tumors. (medscape.com)

The syndrome is passed down genetically ( X-linked recessive inheritance ). (medlineplus.gov)
X-linked recessive pattern may suggest androgen insensitivity syndrome. (uchicago.edu)

While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. (bvsalud.org)

This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. (medscape.com)
The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. (aku.edu)

Sertoli only syndrome, which is associated with relatively normal appearing seminiferous tubules except for an absence of germ cells from which spermatozoa are developed. (thenewjerseymaleinfertilitycenter.com)
Given history, a Sertoli cell tumor is the primary differential diagnosis, with other testicular neoplasms considered less likely. (acvr.org)
Prostatic histopathology revealed squamous metaplasia secondary to feminization syndrome from the Sertoli cell tumor. (acvr.org)
Feminization is a common paraneoplastic syndrome seen with Sertoli cell tumors. (acvr.org)
The main cancer we worry about is something called a Sertoli cell tumor (these make up about 60% of canine testicular cancers). (petful.com)
Others, most commonly Sertoli cell tumours (SCT), may present with signs of feminization. (vin.com)

As the knowledge and understanding of the biological process of testicular descent increases it will pave ways to new treatment plans to treat cryptorchidism more effectively. (springeropen.com)
To understand the process of testicular descent and cryptorchidism, in this review we focus on the two significant factors, i.e. anatomical and hormonal and how they interplay in this intricate process of descent. (springeropen.com)

Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to hormones that produce a male appearance (called androgens). (medlineplus.gov)
Androgen resistance syndromes due to the inability of cells to adequately respond to circulating androgens, either due to an androgen receptor deficiency or an androgen receptor dysfunction. (thenewjerseymaleinfertilitycenter.com)
Morris syndrome (one of the forms of testicular feminization), which develops due to insensitivity to androgens, congenital disorder of 5-alpha-reductase synthesis. (lab24.pl)

Exploratory laparotomy was performed and confirmed a cryptorchid testicular mass with marked torsion. (acvr.org)
Less common but important clinical manifestations include bone marrow suppression and testicular torsion. (acvr.org)
Testicular torsion is generally associated with neoplasia in dogs, with increased risk with large tumors. (acvr.org)
In this case, a 'whirl' sign was appreciated, further supporting a diagnosis of testicular torsion. (acvr.org)
In human literature, detection of the 'whirl' sign is a reliable method for diagnosing testicular torsion in pediatric and adult males, and the 'whirl' sign has been reported in a dog with torsion of a cryptorchid testicular neoplasm on computed tomography previously. (acvr.org)

While there are some male breast cancer risk factors, such as an undescended testicle, Klinefelter syndrome, CHEK2 mutation, and Cowden syndrome, over which parents have little or no control, there are other risk factors they can influence. (foodforbreastcancer.com)

On endocrinologic, genetic, and phenotypic grounds the syndrome of incomplete testicular feminization can be separated from the complete form of testicular feminization and from familial incomplete male pseudohermaphroditism, Type 2. (elsevierpure.com)

Incomplete AIS can include other disorders such as Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome), which is associated with breast development in men, failure of one or both testes fail to descend into the scrotum after birth, and hypospadias, a condition where the opening of the urethra is on the underside, rather than at the tip, of the penis. (health32.com)
The significance of hypothermic environment provided by the scrotum has been associated with normal testicular spermatogenesis [ 2 ]. (springeropen.com)

Androgen insensitivity syndrome (AIS) is caused by various genetic defects on the X chromosome which make the body unable to respond to the hormones responsible for the male appearance. (health32.com)

In dogs diagnosed with testicular neoplasia, anywhere from 4-20% of cases will have multiple primary tumors, as seen in this case. (acvr.org)

9 Cftal H. Aral K, Batıoğlu S, Gökmen O, Çağlar T, Doğu N: Peritoneal fluıd and serum E-P concentratıons ın LUF syndrome. (oyagokmen.com)

CONCLUSION: Pseudo-Bartter syndrome can be a presenting feature of cystic fibrosis. (bvsalud.org)

Since testicular injury is suspected of contributing to some cases of breast cancer, boys should wear athletic supporters and cups, as appropriate, for any sports in which they engage. (foodforbreastcancer.com)

Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. (aku.edu)
The testicular feminization syndrome 500 mg) yielded an increase in s-testosterone fats, this synthetic drug. (sweetcrunchbakeshop.com)
The most extreme form of androgen insensitivity is a condition known as Testicular Feminization Syndrome , in which a baby has the male chromosome but its tissues are completely insensitive to testosterone, and it develops as a female, although lacking ovaries and womb. (the-penis.com)
Endogenous testosterone is produced by testicular, ovarian, and adrenal cortical cells. (empowerpharmacy.com)

Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. (wikipedia.org)
The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor ( AR ) gene. (medscape.com)
Also included in the broad category of incomplete AIS is infertile male syndrome, which is sometimes due to an androgen receptor disorder. (health32.com)

At the expected time of puberty both feminization (breast development) and virilization (clitoral enlargement) took place. (elsevierpure.com)

Clinical signs of feminization include gynecomastia, bilateral symmetric alopecia with hyperpigmentation, a pendulous appearance to the prepuce, and prostatomegaly, as seen in this case. (acvr.org)
Some personal care products have been found to cause signs feminization, including the development of breasts, in boys. (foodforbreastcancer.com)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)

This syndrome has a wide range in degrees of severity, with more severe forms resulting in azoospermia and less severe forms resulting in oligospermia. (thenewjerseymaleinfertilitycenter.com)

CONCLUSIONS: HRTD (most commonly distal RTA and Bartter syndrome) could be relatively common among Egyptian children, and the diagnosis seems challenging and often delayed. (bvsalud.org)

Resistance to white spot syndrome virus in the European shore crab is associated with suppressed virion trafficking and heightened immune responses. (exeter.ac.uk)

The actual incidence of infertility in males with XYY syndrome is unknown. (symptoma.com)

Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)
It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (medscape.com)

Athelia or amastia is sometimes associated with Poland syndrome (ie, absent chest wall muscles, absence of ribs 2-5, deformities of the hands or vertebrae). (medscape.com)

INTRODUCTION: Pseudo-Bartter syndrome (PBS) is a rare manifestation of Cystic fibrosis (CF) and can often be the initial presentation in these patients, however, due to significantly overlapping symptoms it is often misdiagnosed as simple dehydration or Bartter syndrome. (bvsalud.org)

Diagrammatic schema showing testicular descent, A - C shows the trans-abdominal phase and D - F shows the inguinoscrotal phase. (springeropen.com)

Hemochromatosis, which is a rare condition involved in azoospermia by means of iron overload of the pituitary gland occasionally causing isolated gonadotropin deficiency and possibly testicular atrophy. (thenewjerseymaleinfertilitycenter.com)
1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. (bvsalud.org)

Testicular tumours are common in dogs. (vin.com)

16 Şenöz S, Turhan N, Özakşit G, Gülekli B, Gökmen O: Improved treatment for anovulation in clomiphene resistant patients with polycystıc ovarian syndrome by progesterone. (oyagokmen.com)

The complete form of the syndrome occurs in as many as 1 in 20,000 live births. (health32.com)

Uniparental disomy is seen in Angelman's syndrome, Silver Russell syndrome and Prader Willi syndrome but not seen in Bloom syndrome. (medicosplexus.com)

Androgen insensitivity syndrome is one of the conditions that are described as differences of sex development (DSD). (medlineplus.gov)

Other identified disorders were Fanconi syndrome (6 cases with cystinosis), isolated proximal RTA (4 cases), nephrogenic diabetes insipidus (3 cases), and one case for each RTA type IV and Gitelman syndrome. (bvsalud.org)

This means affected dogs often show feminization syndrome . (petful.com)

The aim of the present study was to evaluate the clinical relevance of determining AMH concentration in peripheral blood in the diagnostic workup of dogs with suspected testicular tumours. (vin.com)

This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. (bvsalud.org)

Turner's syndrome does not affect intelligence, although persons with the condition have poor spatial perception and mathematical aptitude, often accompanied by learning disabilities . (symptoma.com)

Blood was collected from 20 dogs with a testicular mass and from 27 healthy controls. (vin.com)
Concentrations between 10 and 22 ng/mL were found in about half of the dogs with non-neoplastic testicular pathologies or with testicular tumours other than SCTs. (vin.com)

Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)

Constance had to sue Nancy for missed child support payments, especially as one of the daughters has Down's syndrome. (blogspot.com)

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External genitalia4

Polycystic3

Recessive2

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CAIS2

Sertoli6

Cryptorchidism2

Androgens3

Torsion5

Klinefelter1

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Scrotum2

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Testosterone4

Androgen receptor3

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