15.10.2

Question 1

Def
Sex
Genetic sex
Gonadal phenotype
Genital Phenotype
Gender identify
Gender role

Answer 1

Sex: physiological, functional and psychological differences that distinguish one as male or female

Genetic Sex: complement of sex chromosomes XX (both copies required for development of ovaries) or XY, presence of SRY gene(required for dev of testis)

Gonadal Phenotype: internal genitalia and morphology of gonads (testis/ovary)

Genital phenotype: appearance of external genitalia, determined by androgenic stimulation in embryonic and fetal life

Gender Identity: basic sense of being a boy or girl / man or woman (personal identity)

Gender Role: behaviours, traits, interests and attitudes whereby genders differ in a given place, culture and historical era

Gender Dysphoria: cognitive or affective discontent with one’s assigned gender

Question 2

Disorders of sexual development

Answer 2

• Congenital conditions in which there is inconsistency between chromosomal, gonadal and/or anatomical sex
• Incidence 1 in 4000 births (2000)
• International consensus conference on intersex 2005 – catalyst for change
• New classification AVOIDS terms such as hermaphrodite and pseudo- hermaphrodite
• Holistic approach to patients
• May present at birth, during infancy, puberty or as adults with infertility

Question 3

Classification of DSD

Answer 3

Slide 18
Boys
- disorder of gonadal development
- disorder of androgen synthesis or action
- other

Girls
- disorders of gonadal (ovarian) development
- androgen excess
- other

• Virilized female 46XX
• Under virilized male 46XY
• Ovo-testicular DSD
• Gonadal dysgenesis (varying degrees of DSD)
• Sex chromosome DSD (45XO,47XXY,etc)

Question 4

Virilized female

Answer 4

Genetic sex: 46XX
- Ovo testicular DSD
- Ovaries (fetal hyperandogenism, maternal hyperandogenism)

Slide 21

Question 5

Congenital Adrenal Hyperplasia (CAH)

Answer 5

• Disorder of adrenal steroid biosynthesis with autosomal recessive mode of inherit ance
• 1:10000-1:20000 births
• Enzyme deficiency causes reduction in end-product s, accumulat ion of hormone precursors & increased ACTH product ion
• Clinical picture reflect s t he effect s of inadequatecortisol & aldost erone production and the increased production of androgens & steroid metabolites
  Slide 26
• most common cause: 21-Hydroxylase Deficiency
• other causes: 11b-hydroxylase

Question 6

21-hydroxylase deficiency

Answer 6

• Mutations in CYP21A2, Chromosome 6
• Accounts for >90% of CAH patients
• Impaired conversion of 17-OHP to 11- deoxycortisol & of progesterone to DOC
• Classic salt wasting (very important to pick up early)
• Classic simple virilising (nor salt wasting)
  Slide 28

Question 7

Clinical manifestations of Cortisol deficiency

Answer 7

Cortisol Deficiency
- Hypoglycaemia
- Vasomotorcollapse
- Inability to withstand stress
- Weakness, muscle wasting, fatigue
- Hyperpigmentation

Question 8

Clinical manifestations of Aldosterone deficiency

Answer 8

• Hyponatraemia, U-Na wasting, salt craving
• Hyperkalaemia
• Acidosis
• Failure to thrive
• Hypotension, dehydration, shock
• Vomiting,diarrhoea

Question 9

Clinical manifestations of Androgen excess

Answer 9

• Virilisation
• Early pubic hair
• Penile enlargement
• Accelerated growth
• Advanced bone age
• Hirsutism

Question 10

Under-virilized male

Answer 10

Slide 35
- Ovo testicular DSD
- testis (defect in testosterone production, testosterone metabolism, testosterone action, MIS)