Genetic conditions Flashcards
what does MEN stand for
multiple endocrine neoplasia
genetics of MEN1
MEN1 gene 11q mutation (autosomal dominant)
what are the 5Ps of MEN1
parathyroid hyperplasia (hyperparathyroidism) pancreatic tumours pituitary tumours peptic ulcers (recurrent) high prolactin
genetics of MEN2 (a and b)
RET gene 10q mutation (autosomal dominant)
presentation of MEN2a (3)
hyperparathyroidism (parathyroid hyperplasia)
medullary thyroid carcinoma (MTC)
phaeochromocytoma (paraganglioma)
need all 3 for diagnosis
presentation of MEN2b/3 (3)
medullary thyroid carcinoma (MTC)
phaeochromocytoma (paraganglioma)
mucosal erosions (tongue)
need all 3 for diagnosis
treatment/prophylaxis of MEN
family screening
prophylaxis thyroidectomy if family history
carney complex presentation
acromegaly
thyroid carcinoma
PPNAD (primary pigmented nodule adrenal disease)
mccune-albright syndrome presentation
café au lait pigmentation polyostotic fibrous dysplasia cushings thyroid nodules precocious puberty
phaeochromocytoma young person with renal tumour headache dizziness hypertension vision problems
von hippel-lindau disease
another name for leprechaunism
Donohue syndrome
what is affected in leprechaunism (Donohue syndrome)
what does this cause
insulin receptors
insulin production is fine, just not accepted by receptors
presentation of leprechaunism (2)
elfin facial features (looks like an elf)
growth retardation
insulin resistance - hyperglycaemia, hyperinsulinaemia, diabetic ketoacidosis
hyperpigmentation
developmental abnormalities
rabson mendenhall syndrome
