Endocrinology Flashcards
Typical blood biochemistry of hypoparathyroidism
Elevated phosphate, low calcium and normal alkaline phosphatase
Definitive diagnostic test for Sjogren’s
Labial gland biopsy
What thyroid carcinoma is very fast growing and often results in stridor
Anaplastic thyroid carcinoma
What is does RET pro onco gene code for
Encodes a receptor for tyrosine kinase . Associated with MEN2 - medullary thyroid carcinoma, bilateral phaeochromocytoma and primary hyperparathyroidism
What syndrome is associated with bilateral inguinal hernias
androgen insensitivity syndrome . breasrt formation is normal due to peripheral androgen conversion, pubic hair is absent
What are the features of Kallmann syndrome
Delayed puberty and impaired smell
What genetic disease is associated with short stature, webbed neck and primary amenorrheoa
Turner sydnrome
Is MEN1 AD or AR?
AD
What tumours occur with MEN syndrome
parathyroid, pancreatic and pituitary
What is associated with phaeochromocytoma, haemangioblastoma and increased risk renal cancer
von hippel lau syndrome
What are the causes of cranial diabetes insipidus
sarcoidosis, head injury, GPA and langerhans’ cell histiocytosis
What is characterised by raised urinary calcium levels, hypokalaemia, metabolic alkalosis and raised renin and aldosterone levels
bartlett’s
What causes a transient hyperthyroidism followed by hypothyroidism in context flu like illness
de quervains thyroiditis
What diuretic has a negative effect on progression to diabetes in people with impaired fasting glucose
thiazides
Gitleman’s syndrome what is metabolic abnormality
Hypokalaemia, metabolic alkalosis and hypocalcinuria
What is difference between liddle syndrome and conn’s
Liddl has low RAS levels, conn’s has high levels. Both present with hypertension, hypokalaemia and metabolic alkalosis
What cancer is associated with MEN2 syndrme
medullary cancer of thyroid, phaeochromocytoma and hyperparathyroidism
What is screening test for carcinoid syndrome
5HIAAA urine 24hr collection
What is McCune Albright syndrome
polyosteotic fibrous dysplasia, cafe au lait hyperpigmemtation and autonomic endocrine hyperfunction
Is androgen insensitivity associate with male or female phenotype
Female
What is the metabolic abnormality seen with hyperparathyroidism
high calcium low phosphate raised alk phos
What cardiac defect is associated with turner’s syndrome
Co-arctation of the aorta
How do craniopharyngiomas present
with diabetes insipidus
Which HLA subtype is most associated with AI thyroid disease and T1 diabetes
HLA DR3. HLA B47 asssociated with CAHyperplasia. HLA B27 associated with seronegative arthropathies, HLA A28 schizophrenia and HLA DR7 nephrotic syndrome
