Weird hormones and syndromes Flashcards
What is CAH caused by?
21-hydroylase deficiency (95%)
Autosomal recessive
What are the immediate signs of CAH?
Neonatal shock
Arrythmias
Dehydration
Vomiting
What electrolyte abnormalities are there in CAH?
HypOnatraemia
HypERkalaemia
HypOglycaemia
Metabolic acidosis
High 17a hydroxyprogesterone
What is the effect of high 17a hydroxyprogesterone in CAH?
Female - virilised genitalia
What can occur later in life with babies born with CAH?
If not salt losers -> crisis
What Sx do children with CAH get?
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
What is the management of CAH?
Cortisol and aldosterone
Pre-natal testing for future pregnancies
Maternal dexamethasone
What is the differential diagnosis for CAH and how can it be differentiated?
Addison’s
Slower onset
Low morning cortisol
Short synACTHen test
What is congenital adrenal insensitivity syndrome (CAIS)?
All male
Testosterone - no effect on sex development
Often undiagnosed until puberty
What are the symptoms of CAIS?
Female appearing genitals
Absent periods
Lack of body/pubic hair
Virilised genitals
What is Turner’s syndrome?
45X0
What are the Sx of Turner’s?
Webbed neck
Short
Delayed puberty
Horseshoe kidneys
Infertility
Babies - lymphoedema of hands and feet
Heart - bicuspid aortic valve, COA, aortic stenosis, aortic dissection
What is Down’s syndrome?
Trisomy 21, caused by non-dysjunction
What is the risk factor for Down’s syndrome?
Advancing maternal age
What are the comorbidities that can come with Down’s syndrome?
ALL/AML
Alzheimer’s
Hypothyroidism
Duodenal atresia
Hirschsprung’s disease
Heart - AVSD, TOF, ASD, VAS
Hearing impairments
Visual impairments - strabismus, cataracts, keratoconus
