A 36-year-old man presented with a rash on the back of his neck.
Examination revealed large, hyperpigmented, velvety plaques affecting the back of his neck and axilla.
What is the most likely underlying mechanism?
Acanthosis nigricans is characterised by hyperpigmented velvety plaques in skin folds/posterior neck. It may also affect the vulva, tongue, and lips as papillary lesions that are not pigmented. If occurring in those over the age of 40, malignancy is more likely (e.g., gastric adenocarcinoma). In younger populations, other causes are more likely (conditions with insulin resistance, including type 2 diabetes, obesity, polycystic ovary syndrome, and other endocrine disorders, and certain drugs such as corticosteroids).
A 30-year-old man is referred to infertility clinic as he and his partner have been unable to conceive despite trying for over a year. On examination, he is tall, with a small testicular volume and has gynaecomastia. On further investigation, he is found to be azoospermic.
What mode of inheritance does his most likely diagnosis follow?
Chromosomal non-dysjunction
Klinefelter’s syndrome
Kallman’s syndrome,?
an inherited cause of hypogonadic hypogonadism which normally presents when males fail to undergo changes associated with puberty. Other examples of X linked recessive conditions include Fragile X Syndrome and Duchenne Muscular Dystrophy.
how to confirm acromegaly
This patient has acromegaly. The diagnosis of acromegaly is confirmed by oral glucose tolerance test (OGTT) (though IGF-1 may be used as a screening test).
craniopharyngiomas or meningiomas. visual field defect
Bitemporal inferior quandrantanopia
prolactinoma visual field defect
Bitemporal superior quadrantanopia
P.S.
lithium usage, type of DI
The most likely diagnosis in this patient is arginine vasopressin resistance (formerly nephrogenic diabetes insipidus), which can be caused by lithium use. Thiazide diuretics are used to manage nephrogenic diabetes insipidus by reducing urine output.
Citalopram can cause
SIADH (SSRI)
A 45-year-old woman presents with episodic facial flushing, diarrhoea and wheezing. She also reports a history of right-sided heart valve issues.
Which test is most appropriate to confirm the suspected diagnosis?
24-hour urinary 5-HIAA levels
The patient’s symptoms are suggestive of carcinoid syndrome which is caused by the release of vasoactive substances such as serotonin. The 24-hour urinary 5-HIAA test which measures a metabolite of serotonin, is useful for confirming the diagnosis.
MEN I involves:
MEN I involves:
Parathyroid hyperplasia/adenoma in 95% of cases
Pituitary prolactinoma or GH secreting tumours (acromegaly) in 70% cases
Pancreas endocrine tumours in 70% of cases. These include insulinoma and gastrinoma, which explains peptic ulceration
A 27 year old man is brought in for a review, 6 months following a traumatic brain injury sustained during a motorcycle accident. He was previously well prior to the accident but now reports feeling tired, listless and suffers with generalised weakness. It is suspected that he has an endocrine problem and initial investigations reveal a 9am cortisol of 175 nmol/l (normal 200-700 nmol/l). Other investigations show deficiencies in FSH, LH, TSH, ACTH, ADH and prolactin.
Which of the following tests is the best to clarify the underlying diagnosis?
Insulin tolerance test
This is the gold standard investigation or ‘challenge’ test which is used to clarify the diagnosis of hypopituitarism. Traumatic brain injury can cause failure of anterior pituitary hormone production. This can result in a mixed presentation of hormone deficiency states. The clinical scenrio here is suggestive of cortisol deficiency. An insulin tolerance test stimulates hypoglycaemia (to less than 2.2 mmol/l) which in turn aggravates a stress response. Given that we know what the normal dynamic response to such stress would be for both ACTH/cortisol and growth hormone this makes it the best test in this situation to ascertain the fucntioning of the pituitary-adrenal axis. Side effects of such significant stress include seizures, cardiac arrest and death
raised prolactin next investigation
pregnancy test
carcinoid syndrome mx
ocreotide
Hypotestosteronism needs Ix
DEXA scan
kallmans test blood s
ALL LOW including FSH and LH
Low GnRH, low testosterone, low LH, low FSH
A 72 year old male is admitted to the acute medical unit with new onset confusion and muscle cramps. He is incoherent and there is no collateral history available but his electronic medical records show a past medical history of hypertension, epilepsy and type 2 diabetes.
His blood results show the following:
Gliclazide
This patient’s symptoms are consistent with hyponatraemia and this is evidenced by the low serum osmolarity and the low sodium in the blood results. A common cause of hyponatraemia is the use of sulphonylureas due to Syndrome of Inappropriate Antidiuretic Hormone (SIADH).
What is the advised initial hormone replacement therapy in patients with confirmed hypopituitarism?
cortisol
carbamazepine with low sodium
SIADH
cause of primary hypgonadism
Primary hypogonadism - mumps
Kallmann’s Syndrome
secondary hypogonadotrophic hypogonadism
spironolactone causing gynaecomastia
Switch spironolactone to eplerenone
The most common hormone to be secreted by a carcinoid tumour is
serotonin
This results in serotonin syndrome, which presents with symptoms including abdominal pain, flushing, wheeze and diarrhoea.
confirming acromegaly
Serum growth hormone is not suppressed following oral glucose
A 35-year-old man presented with a history of recurrent peptic ulcers and hypercalcaemia.
Genetic testing revealed a mutation in a tumour suppressor gene on chromosome 11.
Which of the following is the most likely diagnosis?
MEN 1 is characterised by a mutation in the MEN1 gene on chromosome 11, which encodes the tumour suppressor protein menin. Patients typically present with parathyroid hyperplasia, pancreatic tumours, and pituitary adenomas.
