Testicular Feminization syndrome

Testicular Feminization syndrome

Q. 1

A 15-year-old female presents with primary amen­orrhea.  Her breasts are Tanner 4 but she has no axillary or pubic hair The most likely diagnosis is :

 A

Turner’s syndrome

 B

Mullerian agenesis

 C

Testicular feminization syndrome

 D

Premature ovarian failure

Q. 1

A 15-year-old female presents with primary amen­orrhea.  Her breasts are Tanner 4 but she has no axillary or pubic hair The most likely diagnosis is :

 A

Turner’s syndrome

 B

Mullerian agenesis

 C

Testicular feminization syndrome

 D

Premature ovarian failure

Ans. C

Explanation:

Testicular feminization syndrome


Q. 2

All are seen in testicular feminization syndrome except :

 A

46XY

 B

Primary amenorrhea

 C

Short stature

 D

Vagina may be present

Q. 2

All are seen in testicular feminization syndrome except :

 A

46XY

 B

Primary amenorrhea

 C

Short stature

 D

Vagina may be present

Ans. C

Explanation:

Short stature


Q. 3

Among the following which is a feature of testicular feminization syndrome .

 A

XX pattern

 B

Commonly reared as male

 C

Well formed female internal genitalia

 D

High testosterone levels

Q. 3

Among the following which is a feature of testicular feminization syndrome .

 A

XX pattern

 B

Commonly reared as male

 C

Well formed female internal genitalia

 D

High testosterone levels

Ans. D

Explanation:

High testosterone levels

In Testicular Feminization Syndrome

  • Genotype — 46XY
  • Gonads   — Testis (intrabdominal)
  • Phenotype — Female Internal Genitalia — Vagina is short. uterus absent.

They are reared as female.

Testosterone levels may be Low / Normal / High.

Lab investigation :

  • Testosterone levels may be Normal/High/Low depending on the degree of androgen resistance and the contribution of estradiol to feedback inhibition of the hypothalamus pituitary axis.                  Harrison 17/e, p 2344

LH levels are high (due to insensitivity of Pituitary and hypothalamus to testosterone) but FSH levels are Normal.


Q. 4

In Testicular Feminization syndrome Gonadectomy is indicated :

 A

As soon as it is diagnosed

 B

At puberty

 C

Only when Malignancy develops in it

 D

When hirsutism is evident

Q. 4

In Testicular Feminization syndrome Gonadectomy is indicated :

 A

As soon as it is diagnosed

 B

At puberty

 C

Only when Malignancy develops in it

 D

When hirsutism is evident

Ans. B

Explanation:

At puberty

Patients of Testicular Feminization syndrome (Androgen insensitivity) are genotypically males (Karyotype 46XY) but phenotypically females (i.e. male pseudo hermaphroditism). Due to the presence of Y chromosome gonads are testis which remain intraabdominal and have a malignant potential (Most common = Gonadoblastoma, Dysgerminoma). Therefore testis should be removed in such patients. B/L Laparoscopic Gonadectomy is the preferred procedure°. As far as timing of Gonadectomy is concerned ‑

“In patient with complete androgen insensitivity, the testis should be removed ‘ter Pubertal developmen

is complete to prevent malignant degeneration.


Q. 5

Androgen insensitivity syndrome true is:

 A

Phenotype may be completely female

 B

Predominantly ovarian component in gonads

 C

Always in female

 D

Testes formed abnormally and receptors are normal

Q. 5

Androgen insensitivity syndrome true is:

 A

Phenotype may be completely female

 B

Predominantly ovarian component in gonads

 C

Always in female

 D

Testes formed abnormally and receptors are normal

Ans. A

Explanation:

Phenotype may be completely female [Ref. Harrison 17th/e p. 2344-2345; 16th/e p. 2218, 2219]

Androgen Insensitivity syndrome (Testicular feminisation syndrome)

  • The characteristic features of these disorders are that they are genotypically male (XY) while phenotypically they are female.
  • These cases usually present as female with abdominal testis.

Prepubertal children with this disorder are often detected when inguinal masses prove to be a testis or when a testis is unexpectedly found during herniorrhapy in phenotypically female.

  • It is called testicular feminisation syndrome but the name is both stigmatising and inaccurate (the testes do not produce ,feminising,factors).
  • The preferred name, complete androgen insensitivity syndrome (CATS) reflects the underlying aetiology.
  • The cause of androgen insensitivity syndrome is the abnormality of the androgen receptor.
  • In the fetus with CAIS testes forms normally due to the presence of the (SRY gene) on chromosome Y.
  • At the appropriate time, these testes secretes anti Mullerian hormone leading to the regression of mullerian ducts. Hence CAIS ‘women’ do not have a uterus.
  • Testosterone is also produced at the appropriate time. However due to the complete inability of the androgen receptor to respond, the external genitalia do not virilise and instead undergo female development.
  • These patients have vagina instead of penis.
  • Other areas where testosterone may have important fetal effects, such as the brain, will also develop along the female path.
  • The result is a female (both physically and psychologically) with no uterus, testis present which is found at some  point in their line of descent through the abdomen from the pelvis to the inguinal canal.
  • During puberty, breast development will be normal; however, the effects of androgens will not be seen, so pubic and axillary hair growth will be minimal.
  • Majority of women with CAIS have shortened vagina, when compared with normal average length of 10-12 cm.
  • The cause of this lies in the embroyological development of the vagina, – Upper portion of vagina                              —) develops from mullerian ducts – Lower portion of vagina —) develops from urogenital sinus.
  • In CAIS mullerian duct regresses, under the effect of mullerian inhibiting hormone, leaving just the part derived from the urogenital sinus.

Q. 6

16 year old girl with primary amenorrhoea attends OPD. She has normal sexual development and normal breast but with absent public and axillary hair. Examination shows B/L inguinal hernias. USG shows absent uterus and blind vagina. Diagnosis will be

 A

Turner syndrome

 B

Mullerian agenesis

 C

Star syndrome

 D

Androgen insensitivity syndrome

Q. 6

16 year old girl with primary amenorrhoea attends OPD. She has normal sexual development and normal breast but with absent public and axillary hair. Examination shows B/L inguinal hernias. USG shows absent uterus and blind vagina. Diagnosis will be

 A

Turner syndrome

 B

Mullerian agenesis

 C

Star syndrome

 D

Androgen insensitivity syndrome

Ans. D

Explanation:

Androgen insensitivity syndrome [Ref. Harrison 1661/e p 2218, 2219 & 15th/e p 2182]

  • It is a case of Testicular feminisation syndrome.
  • The characteristic features of these disorders are that they are genotypically male (XY) while phenotypically they are female.
  • These cases usually present as female with abdominal testis.

Prepubertal children with this disorder are often detected when inguinal masses prove to be a testis or when a testis is unexpectedly found during herniorrhapy in phenotypically female.

  • It is called testicular feminisation syndrome but the name is both stigmatising and inaccurate (the testes do not produce feminising factors).
  • The preferred name, complete androgen insensitivity syndrome (CAIS) reflects the underlying aetiology.
  • The cause of androgen insensitivity syndrome is the abnormality of the androgen receptor.
  • In the fetus with CA1S testes forms normally due to the presence of the (SRY gene) on chromosome Y.
  • At the appropriate time, these testes secretes anti Mullerian hormone leading to the regression of mullerian ducts. Hence CAIS ‘women’ do not have a uterus.
  • Testosterone is also produced at the appropriate time. However due to the complete inability of the androgen receptor to respond, the external genitalia do not virilise and instead undergo female development.
  • These patients have vagina instead of penis .
  • Other areas where testosterone may have important fetal effects, such as the brain, will also develop along the female path.
  • The result is a female (both physically and psychologically) with no uterus, testis present which is found at some point in their line of descent through the abdomen front the pelvis to the inguinal canal.
  • During puberty, breast development will be normal; however, the effects of androgens will not be seen, so pubic and axillary hair growth will be minimal.
  • Majority of women with CATS have shortened vagina, when compared with normal average length of 10-12 cm.
  • The cause of this lies in the embroyological development of the vagina,

Upper portion of vagina                                    develops from mullerian ducts

Lower portion of vagina                                    develops from urogenital sinus.

In CATS mullerian duct regresses, under the effect of mullerian inhibiting hormone, leaving just the part derived from the urogenital sinus.

Clinical features of CAIS

  • Female external genitalia
  • 46 xy karyotype
  • Intrabdominal or inguinal testes
  • Absent uterus
  • Primary amenorrhoea
  • Reduced or absent sexual hair (pubic and axillary)
  • Normal breast development
  • Vaginal hypoplasia 

Q. 7

Which of the following condition present with absence of both Mullerian and Wolffian duct structures:

 A

Antimullerian Hormone deficiency

 B

Androgen Insensitivity Syndrome

 C

FSH Receptor defect

 D

Ovotesticular syndrome

Q. 7

Which of the following condition present with absence of both Mullerian and Wolffian duct structures:

 A

Antimullerian Hormone deficiency

 B

Androgen Insensitivity Syndrome

 C

FSH Receptor defect

 D

Ovotesticular syndrome

Ans. B

Explanation:

Both Wolffian duct structures and Mullerian duct structures do not develop in individuals with Androgen Insensitivity Syndrome.
 
Ref: Robboy’s Pathology of the Female Reproductive Tract, 2008, 2nd Edition, Chapter 1; Blaustein’s Pathology of the Female Genital Tract, 2002, 5th Edition, Chapter 1; Pediatric Endocrinology’ By Sperling, 3rd Edition, Chapter 5; Textbook of Gynecology By Sudha Salhan, 2012, Page 198

Q. 8

All of the following statements about Androgen Insensitivity Syndrome are true, except:

 A

Patients have an XY genotype

 B

Pubic hair are abundant

 C

Ovaries are absent

 D

Short vagina may be present

Q. 8

All of the following statements about Androgen Insensitivity Syndrome are true, except:

 A

Patients have an XY genotype

 B

Pubic hair are abundant

 C

Ovaries are absent

 D

Short vagina may be present

Ans. B

Explanation:

Androgen Insensitivity Syndrome is characteristically associated with scanty or no pubic hair and not abundant pubic hair. Patients have a XY genotype with absence of ovaries and a short vagina.

Ref: Shaw’s Textbook of Gynaecology; 13th edition, Pages 105 and 279; Hormones, Brain, and Behavior, Volume 5 edited by Donald W. Pfaff


Q. 9

Primary Amenorrhea with absent uterus, normal breasts and scanty pubic hair is seen in:

 A

Mayer Rokitanski Kuster Hauser syndrome

 B

Turner’s syndrome

 C

Androgen Insensitivity Syndrome

 D

Noonan syndrome

Q. 9

Primary Amenorrhea with absent uterus, normal breasts and scanty pubic hair is seen in:

 A

Mayer Rokitanski Kuster Hauser syndrome

 B

Turner’s syndrome

 C

Androgen Insensitivity Syndrome

 D

Noonan syndrome

Ans. C

Explanation:

Primary Amenorrhea with absent uterus, normal breasts and scant pubic hair is consistent with a diagnosis of Androgen Insensitivity Syndrome.

Androgen Insensitivity Syndrome is caused by inability of end organs to respond to androgens.

In this either the androgen receptor is deficient or the receptor is defective. Karyotype is 46,XY.

These individuals are phenotypically females with breast development, normal female external genitalia, blind ending vagina, absent uterus, tubes, cervix and upper 2/3 rd vagina, scanty pubic hair, with gonads in the labia or inguinal canal.

Ref: William’s Gynecology, 1st Edition, Page 368 ; Speroff, 7th Edition, Pages 420, 421, 422 ; Textbook of Gynecology By DC Dutta, 4th Edition, Pages 405-6 ; Pediatric Endocrinology : A Practical Clinical Guide By Sally Radovick, Margaret H. MacGillivray, Page 389


Q. 10

A 21 year old woman with a height of 153cm, weight of 51kg presents with primary amenorrhea. On examination, she has well developed breasts, no pubic or axillary hair and does not have hirsuitism. Which of the following represents the most probable diagnosis?

 A

Turner’s Syndrome

 B

Stein-Leventhal Syndrome

 C

Premature Ovarian Failure

 D

Complete Androgen Insensitivity Syndrome

Q. 10

A 21 year old woman with a height of 153cm, weight of 51kg presents with primary amenorrhea. On examination, she has well developed breasts, no pubic or axillary hair and does not have hirsuitism. Which of the following represents the most probable diagnosis?

 A

Turner’s Syndrome

 B

Stein-Leventhal Syndrome

 C

Premature Ovarian Failure

 D

Complete Androgen Insensitivity Syndrome

Ans. D

Explanation:

Primary Amenorrhea with absent uterus, normal breasts and scant pubic hair is consistent with a diagnosis of Androgen Insensitivity Syndrome.

 
Complete Androgen Insensitivity Syndrome is an X linked disorder, only 46XY offspring are affected if the mother is a carrier of mutation.
In this syndrome, the individual has normal level of circulating androgens, but their effect on target tissue is negligible due to dysfunctional androgen receptors.
 
These individuals are phenotypically females with breast development, normal female external genitalia, blind ending vagina, absent uterus, tubes, cervix and upper 2/3rd vagina, scanty pubic hair, with gonads in the labia or inguinal canal.
 
Ref: Animal Homosexuality: A Biosocial Perspective By Aldo Poian, Page 163 ; Textbook of Gynecology By DC Dutta 4th Edition, Pages 405, 406, 421-3 ; Clinical Guidelines For Advanced Practice Nursing: An Interdisciplinary By Saxe, 2nd Edition, Page 158.

Q. 11

A patient, who appears to be female, is found to be 46XY in genotype. The patient’s vagina is very shallow, ending in a blind pouch, and there are palpable masses in the labia. The diagnosis of testicular feminization syndrome is made. Which of the following was most likely present during the early fetal life of this individual?

 A

A streak ovary

 B

A uterus

 C

An oviduct

 D

Mullerian inhibitory factor

Q. 11

A patient, who appears to be female, is found to be 46XY in genotype. The patient’s vagina is very shallow, ending in a blind pouch, and there are palpable masses in the labia. The diagnosis of testicular feminization syndrome is made. Which of the following was most likely present during the early fetal life of this individual?

 A

A streak ovary

 B

A uterus

 C

An oviduct

 D

Mullerian inhibitory factor

Ans. D

Explanation:

Testicular feminization is a disorder of the androgen receptor. Phenotypically, the patient appears female, but has a blindly ending vagina and lacks a uterus or other female internal reproductive organs. The patient has an XY genotype. Since the gene for testes determining factor (TDF) is on the Y chromosome, TDF will cause the indifferent gonad to develop into a testis containing Sertoli cells. Sertoli cells at this stage will secrete MIF, a substance that suppresses the paramesonephric ducts, preventing the formation of female internal reproductive organs.

This patient would not have a streak ovary, a finding in Turner’s syndrome that is associated with a 45,XO genotype. In fact, the patient would have testes, since the genetic complement contained a Y chromosome.

The testes in individuals with testicular feminization syndrome are often undescended and are usually removed surgically. This patient would not possess a uterus or an oviduct. Both of these structures are derived from the paramesonephric duct, which is suppressed by MIF.


Q. 12

The karyotype of patient with androgen insensitivity syndrome is :

 A

46XX

 B

46XY

 C

47XXY

 D

45XO

Q. 12

The karyotype of patient with androgen insensitivity syndrome is :

 A

46XX

 B

46XY

 C

47XXY

 D

45XO

Ans. B

Explanation:

Answer is B (46XY) :

Individual with ‘androgen insensitivity syndrome’ are XY individuals (male karyotype) with a female phenotype. Mutation in the androgen receptor causes resistance to androgen action and the androgen insensitivity syndrome results.


Q. 13

Diagnose the disorder based on features of external genitalia of a male child shown in the photograph below ? 

 A

Cushing’s syndrome.

 B

Partial androgen insensitivity syndrome.

 C

True hermaphrodite.

 D

Congenital adrenal hyperplasia.

Q. 13

Diagnose the disorder based on features of external genitalia of a male child shown in the photograph below ? 

 A

Cushing’s syndrome.

 B

Partial androgen insensitivity syndrome.

 C

True hermaphrodite.

 D

Congenital adrenal hyperplasia.

Ans. B

Explanation:

Androgen insensitivity

  • Refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy.
  • This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.

Partial androgen insensitivity syndrome (pais):

  • It is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais).
  •  In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.
  • During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical.
  •  The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop. 
  • In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).

Q. 14

Diagnose disorder based on features of external genitalia of a male child photograph:

 A

Cushing’s Syndrome

 B

Androgen Insensitivity Syndrome

 C

Hermaphrodite

 D

Congenital Adrenal Hyperplasia

Q. 14

Diagnose disorder based on features of external genitalia of a male child photograph:

 A

Cushing’s Syndrome

 B

Androgen Insensitivity Syndrome

 C

Hermaphrodite

 D

Congenital Adrenal Hyperplasia

Ans. B

Explanation:

Ans:B.)Androgen insensitivity Syndrome.

The image is showing different grades of Androgen insensitivity Syndrome.

Androgen insensitivity syndrome (AIS).

  • It is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.
  • This failure of virilization can be either complete androgen insensitivity syndrome or partial androgen insensitivity syndrome  depending on the amount of residual receptor function.
  • Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes.
  • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus.
  • The phenotype of individuals with partial androgen insensitivity syndrome may range from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or diminished penile size).
  • In either case, affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone (DHT), which differentiates this condition from 5-alpha reductase deficiency.
  • Because the testes produce normal amounts of müllerian-inhibiting factor (MIF), affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina.

 

 

 

 



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