Weird hormones and syndromes

Question 1

What is CAH caused by?

Answer 1

21-hydroylase deficiency (95%)
Autosomal recessive

Question 2

What are the immediate signs of CAH?

Answer 2

Neonatal shock
Arrythmias
Dehydration
Vomiting

Question 3

What electrolyte abnormalities are there in CAH?

Answer 3

HypOnatraemia
HypERkalaemia
HypOglycaemia
Metabolic acidosis
High 17a hydroxyprogesterone

Question 4

What is the effect of high 17a hydroxyprogesterone in CAH?

Answer 4

Female - virilised genitalia

Question 5

What can occur later in life with babies born with CAH?

Answer 5

If not salt losers -> crisis

Question 6

What Sx do children with CAH get?

Answer 6

Tall for age - but short adults if delayed Dx
Early puberty
Female - abnormal/absent periods, facial hair, deep voice
Males - enlarged penis, small testicles, acne, deep voice

Question 7

What is the management of CAH?

Answer 7

Cortisol and aldosterone
Pre-natal testing for future pregnancies
Maternal dexamethasone

Question 8

What is the differential diagnosis for CAH and how can it be differentiated?

Answer 8

Addison’s
Slower onset
Low morning cortisol
Short synACTHen test

Question 9

What is congenital adrenal insensitivity syndrome (CAIS)?

Answer 9

All male
Testosterone - no effect on sex development
Often undiagnosed until puberty

Question 10

What are the symptoms of CAIS?

Answer 10

Female appearing genitals
Absent periods
Lack of body/pubic hair
Virilised genitals

Question 11

What is Turner’s syndrome?

Answer 11

45X0

Question 12

What are the Sx of Turner’s?

Answer 12

Webbed neck
Short
Delayed puberty
Horseshoe kidneys
Infertility
Babies - lymphoedema of hands and feet
Heart - bicuspid aortic valve, COA, aortic stenosis, aortic dissection

Question 13

What is Down’s syndrome?

Answer 13

Trisomy 21, caused by non-dysjunction

Question 14

What is the risk factor for Down’s syndrome?

Answer 14

Advancing maternal age

Question 15

What are the comorbidities that can come with Down’s syndrome?

Answer 15

ALL/AML
Alzheimer’s
Hypothyroidism
Duodenal atresia
Hirschsprung’s disease
Heart - AVSD, TOF, ASD, VAS
Hearing impairments
Visual impairments - strabismus, cataracts, keratoconus

Question 16

What is Edward’s?

Answer 16

Trisomy 18

Question 17

What are the symptoms of Edward’s?

Answer 17

Rocker bottom feet
Fingers
Low set ears
Microcephaly with large occipital region
Cleft lip/palate
Mortality

Question 18

What is Patau’s?

Answer 18

Trisomy 13

Question 19

What are the symptoms of Patau’s?

Answer 19

Cyclopia
Polydactyly
Probiscus
Mortality

Question 20

What is Kleinfelter’s?

Answer 20

47XXY

Question 21

What are the symptoms of Kleinfelter’s?

Answer 21

Tall stature
Feminine features
Lack of body hair
Infertility
T2DM
Osteoporosis

Question 22

What is Noonan’s?

Answer 22

Turner’s Sx in men
Autosomal dominant