Sexual Development

Question 1

What is ovotesticular DSD

Answer 1

Ovarian and testicular tissue in the same individual
Presence of structures derived from Mullerian ducts will depend on the AMH production
Presence of structures derived from Wolffian ducts and the degree of virilization will depend on the production of Testosterone

Question 2

What is 46, XX ovotesticular DSD

Answer 2

Can be caused by mosaic or chimeric forms of SRY

Question 3

What is 46, XY ovotesticular DSD

Answer 3

Variants in SRY

Question 4

What is 46, XX testicular DSD

Answer 4

A minority of individuals present at birth with ambiguous genitalia.
Present after puberty with gynaecomastia, small testes and infertility

Question 5

What is the treatment for 46, XX testicular DSD

Answer 5

Low testosterone requires replacement, grwoth hormone treatment or mammopalsty

Question 6

What is 46, XX gonadal dysgenesis

Answer 6

Failure of ovarian development
Internal derived from mullerian strcutures
Female external genitali
Presents with delayed puberty, primary/secondary amenorrhoea

Question 7

What is fetal androgen excess

Answer 7

Exposure to adrenal andorgens in utero
Mullerian structure develop
External genitalia are virilised

Question 8

What is congenital adrenal hyperplasia

Answer 8

Most common form is 21-hydroxyalse deficiency
Classic form - virilisation at birth, may also have slat wasting
Non-classic - presents postnatally, may present at puberty with acne, hirsutism, and irregular periods

Question 9

What is the treatment for CAH

Answer 9

Glucocorticoid/mineralocorticoid replacement

Question 10

What happens in aromatase deficiency

Answer 10

Converts androgens to oestrogens
High levels of adnreogens can lead to virilisation of XX fetus
Can lead to maternal vrilisation in pregnancy

Question 11

What happens in cytochrome P450 oxidoreductase deficiency

Answer 11

Electron donoar in steroidogenesis
Broad range of phenotypes with different variants
High levels of andrgoens in an affected feus can lead to virilisation of XX fetus
Can lead to maternal virilisation
Can also lead to XY DSD

Question 12

What happens in maternal l androgen excess

Answer 12

Luteoma-beign tumour of the ovary which can produce androgens with virlising consequences for the fetus and the mother

Question 13

What is 46, XY, complete gonadal dysgenesis

Answer 13

Dysgenetic testes
Very low testosterone
Internal organs derived from Mullerian structures
Female external genitalia
Presents with dleayed puberty/primary amenorrhoea
Variants in SRY

Question 14

What is 46, XY, partial gonadal dysgenesis

Answer 14

Abnormal development of the testes
Low testosterone
Ambiguous external genitalia

Question 15

What is complete Androgen Insensitivity Syndrome

Answer 15

Testes and adrenal glands produce normal or icnreased levels of andrgoens
Absent or rudimentary Mullerian strucutres
Absent or rudimentary Wolffian structures
External genitalia female but with short vagina
Present in childhood with masses in the inguinal canals or at puberty with amenorrhea
Testes are still dormant till puberty
Testosterone aromatised to oestrogne so spontaneous puberty
Scant pubic and axillary hair
Primary amenorrhoea

Question 16

What is the management of complete AIS

Answer 16

Surgery/vaginal dilation
Gonad removal
Hormone replacement after gonadectomy

Question 17

What is partial AIS

Answer 17

Ext genitalia may be typially female, ambiguous or typically male
Present at puberty with clitoromegaly or gynaecostmia
Females: early gonadectomy
Males: orchidopexy or hypospadias reapir and androgen treament

Question 18

What is mild AIS

Answer 18

External genitalia are typically male
May develop gynaecomastia necessitating surgery
Often comes to light as part of investigations for infertility

Question 19

What is 5 alpha reductase deficiency

Answer 19

Internal genitalia male
Variable apeparnce of external genitlalia
Substanial variation on gender identity outcomes
During puberty, increased androgen levels lead to virilisation

Question 20

What are signs of Turner syndrome

Answer 20

Suspected female with short stature, lyphedema, cardiac or renal abnormalities, absent or delayed puberty, premature ovarian filaure

Question 21

What are signs of Klinefelter

Answer 21

Suspected in males with hypogonadism, small testes, azoospermia and gynecomastia, speech delay, learning disorder

Question 22

What are signs of chimerism

Answer 22

Individuals with 46, XX/ 46, XY chimerism may present with external genitalia ranging from typical male to ambiguous to typical female

Question 23

What are signs of mosaicism

Answer 23

Individuals with 45, X/ 46, XY present as male or female depending on the percentage of 45, X cells