Disorders Of Sex Developement

Question 1

DSD is a umbrella term

Answer 1

Different incidence depending of the definition
Turners syndrome 1/2500
Kleinfleters xxy 1/450

Question 2

History in DSD

Answer 2

Pregnancy medication topical meds and CAM
Consanguinity increased risk of genetic problems eg StAR
Family history neonatal deaths genetics
Amenorrhea poor fertility and viriliasion

Question 3

Examination of DSD

Answer 3

1 pigmentation ACTA ? CAH
2 palpable gonad = Testicle = Y #
Males penis <2.5cm =microbe is
Females clitorus >1 cm = clitomegaly

If ambiguous genitalia and a palpable gonad = underviralised male
If ambiguous genitalia and NO palpable gonad
1 if Y# = under viralised male
2 no Y # = viralised female

Question 4

Investigations

Answer 4

?CAH U/E and left San dBSL
Fish for Y#
Karyotype

CAH 17OHP 
\+/- Short synathin tst and urinary  steroid levels
FSH/LH/DHT
Pelvic uss / +/- MRI 
Genetic testing

Question 5

Features of CAH

Answer 5

1 ACTH elevated pigmentation
2 aldosterone def salt loss and dehydration ( low Na+/ High K+ and acidosisis
3 cortisol def hypoglycemia and shock
4 Androgen excess = virilalisation. 21OHP
CAH many causes enzymes deve and genes most common cause is 17OHP

Question 6

Features of CAH in different age groups

Answer 6

1 infants day 7-21 ambiguous genitalia / shock hypoglycemic low Na+

Child viriliastion rapid growth age 1-8years and increasing bone age no testicular growth

Older child- adults milder presentation 
Premature puberty
Severe acne 
Hirsituism 
PCOS
2ary amenorrhea with androgen excess symptoms

Question 7

Treatment of CAH

Answer 7

Medic alert bracelet
CAH support groups
Genetic counseling for X linked problems
In uterine treatment can be done but CONTROVERSIAL and side effects

Low Na+ and high K+ and acidotic needs NS and 5% dextrose
If BSL low 10% glucose 2mls /kg bolus
IV hydrocortisone 100mg/m2 ACUTE
Go home on regular steroids 12-15mg/m2 hydercortisoe OR flurocortisone 0.05-0.2mg /day

Sick day management of primary CAH
Increase the dose 3x regular treatment moderately sick and can tolerate oral

4x per day if sicker
Unable to tolerate oral IMI and hospital

3 salt replacement
Monitor
Growth BP pigmentation and skeltalat

Question 8

How do you locate the gonads if NOT palpable in DSD

Answer 8

USS / MRI
May need a laparoscopy
Malignancy risk if intra abdominal varies depending on the categories of DSD high/ intermediate no risk 50% risk of of malignancy with intra abdominal testicles
Gonadal biopsy and gene tests

Question 9

Partial and complete androgen insensitivity syndrome. PAIS/CAIS

Answer 9

One gene its a spectrum not 2 disease
PAIS sex assignment can be complex
Su may be needed
Gonadectomy if assigned female 50% chance of malignancy

CAIS gonadectomy 25 % lifetime risk of malignancy

Psychological issues around sexuality infertility and inheritance in the females
Support groups and
HRT

Question 10

Gynecomastica

Answer 10

Breast changes are seen in 30-50% males
Normal if the testicles are 8-15ml size mid puberty physiological 14-15years of age
If the G is large/incongruous with small gonads consider PAIS or Oestrogen secreting tumor
# disorders Kleinfelfter XXY hypoglon

Question 11

Klinefelters syndrome

Answer 11

XXY 
1/450
Optimize testosterone replacement 
Hypogonadism save the sperm 
May present with Gynecomastica

Question 12

DSD can present at any age T/F
First line with infants born with ambiguous genitalia +/- gonads ?CAH T/F
CAH is the commonest cause of ambiguous genitalia in the newborn

Answer 12

All true