Monogenetic Non-diabetic Endocrine Syndromes

Question 1

what does MEN stand for

Answer 1

multiple endocrine neoplasia

Question 2

inheritance seen in MEN1

Answer 2

autosomal dominant

Question 3

where do MEN1 mutations occur

Answer 3

MEN1 gene located on chromosome 11q13

Question 4

what is the typical result of mutations associated with MEN1

Answer 4

loss/reduced protein function

Question 5

what are MEN1 genes involved in (3)

Answer 5

how a cell responds to DNA damage, chromatin remodelling and cell signalling pathway regulation

Question 6

how do patients with MEN1 usually present

Answer 6

pituitary adenoma

Question 7

leading cause of excess deaths in MEN1

Answer 7

malignant pancreatic neuroendocrine tumour and thymic carcinoids

Question 8

what are the indications for germline MEN1 testing

Answer 8

2+ MEN1 associated tumours or familial diagnosis
clinical suspicion
first degree relative with diagnosis

Question 9

what is the goal of management of MEN1

Answer 9

prevent premature morbidity and mortality from MEN1-associated tumours, while preserving quality of life

Question 10

what causes MEN2

Answer 10

Autosomal dominant RET gene mutation

Question 11

what are the 2 main subtypes of MEN2

Answer 11

a and b

Question 12

what is another name for MEN2a

Answer 12

sipple syndrome

Question 13

what is the most common subtype of MEN2

Answer 13

a

Question 14

what is sipple syndrome

Answer 14

the combination of medullary thyroid cancer in association with phaeochromocytoma and parathyroid tumours

Question 15

what is MEN2b

Answer 15

MTC and pheochromocytoma in association with a marfanoid habitus, mucosal neuromas, medullated corneal fibres, intestinal autonomic ganglion dysfunction

Question 16

what is the typical first manifestation of MEN2

Answer 16

medullary thyroid cancer

Question 17

what is von hippel-lindau syndrome

Answer 17

Inherited disorder causing multiple tumours (both benign and malignant) in the central nervous system (CNS) and viscera

Question 18

what inhertance is seen in von hippel-lindau syndrome

Answer 18

autosomal dominant

Question 19

pathophysiology of VHL

Answer 19

mutation in VHL gene leads to accumulation of HIF proteins and stimulation of cellular proliferation

Question 20

what is neurofibromatosis type 1

Answer 20

genetic condition that causes tumours along the nervous system

Question 21

what causes neurofibromatosis type 1

Answer 21

mutation in the NF1 gene

Question 22

diagnostic criteria for neurofibromatosis type 1

Answer 22

2 or more of the following:
cafe au lait macules
>2 neurofibromas
axillary or inguinal freckling
optic glioma
lisch nodules
first degree relative with NF1

Question 23

name some other features of NF1

Answer 23

scoliosis, learning difficulties and rarely phaeochromocytoma

Question 24

what causes carney complex

Answer 24

Mutation in PRKAR1A

Question 25

what is characteristic of carney complex

Answer 25

by multiple benign tumours most often affecting the heart, skin and endocrine system and abnormalities in skin pigmentation

Question 26

what is McCune-Albright syndrome

Answer 26

complex genetic disorder affecting the bone, skin and endocrine systems

Question 27

what causes McCune-Albright syndrome

Answer 27

Post-zygotic somatic GNAS mutation

Question 28

clinical presentation of McCune-Albright syndrome

Answer 28

cafe au lait skin pigmentation
precocious puberty
thyroid nodules
cushings syndrome