Endocrine genetics (pie) Flashcards
Define what is meant by a monogenic disorder
Single gene mutation causes the disorder
Define what is meant by a polygenic disorder
Multiple gene mutations causing the disorder
What are the different means of inheritance of monogenic disorders?
- Autosomal dominant and recessive
- X-linked dominant and recessive
- Y-linked
- Mitochondrial
What gene mutation is MEN type 1 associated with ?
MEN1 gene
What gene mutation is MEN type 2 associated with ?
RET gene
What mode of inheritance is MEN1 and MEN2 ?
Autosomal dominant
What are the tumours which commonly occur in MEN1 ?
- Pituitary adenoma
- Parathyroid hyperplasia
- Pancreatic tumours
The 3 P’s
What are the tumours which commonly arise in MEN type 2A?
- Parathyroid hyperplasia
- Medullary thyroid carcinoma
- Phaechromocytoma
What are the tumours which commonly occur in MEN type 2B
- Mucosal neuromas
- Marfoid body habitus
- Medullary thyroid carcinoma
- Phaechromocytoma
What is the treatment of MEN2?
- Prophylactic thyroidectomy
- Screening for phaechromocytoma
- Screening for parathyroid disease
What are the key manifestations of carney complex?`
Primary pgimented nodular adrenocorctial disease (PPNAD) causes excess cortisol secretion leading to cushings syndrome
What is the genetic mutation causing cairney complex?
PRKAR1A
What are the clinical features of MCCune-albright stndrome ?
- Fibrous dysplasia of bones
- Cafe au lait patches
- Precocious puberty
- Thyroid nodules
- GH excess
- Cortisol excess ==> cushings
What is the genetic mutation associated with MCCune albright syndrome ?
GNAS1
What are the clinical features of Von-Hippel lindau disease ?
- Retinal haemangiomas
- CNS haemoangioblastomas
- Pancreatic cysts
- Kidney cysts
- Renal cell carcinomas
