DV's Random Notes

PAEDIATRICS: CAH

- The main short term regulator of steroid hormone synthesis: StAR (Steroidogenic Acute Regulatory protein).
- The rate limiting step of adrenal steroidogenesis is incorporation of cholesterol across the mitochondrial inner and outer membrane.
- IMAGe syndrome: intrauterine growth retardation, metaphyseal dysplasia, Adrenal insufficiency, Genital abnormalities.
- Ambiguous genitalia in girls- 21Alpha hydroxylase deficiency.
- Ambiguous genitalia in girls with hypertension- 11 Beta hydroxylase deficiency.
- Ambiguous genitalia in boys, postnatal virilization in girls- 3BetaHydroxy Steroid Dehydrogenase deficiency.
- Ambiguous genitalia in boys, lack of puberty in both sexes with hypertension- 17Alpha hydroxylase deficiency.
Steel-Richardson syndrome: Progressive supranuclear palsy