Congenital adrenal hyperplasia, causes diversion into the androgen production pathway. Thus, XX females may appear as apparent males at birth. Known as virilisation of genitalia. Pathophysiology is:
Deficiency of 21-alphahydroxylase.
18 year old female with T1D. Following evening meal, consumes 17 units of alcohol on night out. Takes insulin as per carb counting. However struggles to wake up. How does alcohol contribute to this?
Alcohol inhibits glycogenolysis.
How will nephrogenic diabetes insipidus look on patients water deprivation test?
Low urine osmolality after both fluid deprivation and desmopressin.
How does jaundice present within 24 hrs of age:
- Haemolytic disease of newborn
- Infections
- G6PD deficiency
How does jaundice present between 24-72 hrs:
- Physiological
- Sepsis
- Polycythaemia
How does juandice appear after 72 hrs of age:
- Extrahepatic biliary atresia
- Sepsis
- Congenital hypothyroidism
If found to be in a diabetic ketoacidotic state, when treating which electrolyte must be aware of as it may become depleted in the body?
-Potassium
- As insulin drives potassium into cells, however, in ketoacidotic state, theres no insulin to perform this function.
- Thus potassium leaks out of the cells.
- The high glucose levels in the blood results in a glycosuria in the urine and subsequently an osmotic diuresis.
Results in potassium loss through kidneys
Young girl presents with ambiguous genitalia. Dr diagnoses her with congenital adrenal hyperplasia. This is caused by deficiency of which particular enzyme?
- 21-hydroxylase.
- 21-hydroxylase results in low production of cortisol and compensatory adrenal hyperplasia. Results in increased androgen production and ambiguous genitalia.
Male with gynaecomastia. Later diagnosed with testicular germ cell tumour:
Testicular tumours secrete beta-HCG, which increases oestrogen levels, promoting proliferation of breast tissue.
How is DKA caused?
DKA is caused by uncontrolled lipolysis (not proteolysis) which results in an excess of free fatty acids that are ultimately converted to ketone bodies.
define menarche
the first occurrence of menstruation
In what orders does menarche occur?
Breast buds > growth of pubic hair, growth of axillary hair
If someone has presence of anti-TPO, means likely to have hashimotos thyroiditis, which is associated in the development of?
MALT lymphoma
A 24-year-old man presents to the review clinic after surgical removal of an endocrine organ. Prior to the decision for surgery, he had been complaining of excessive sweating, headache, palpitations and had high blood pressure (200/120mmHg). Histological staining of the organ in question would reveal which of the following cells?
Chromaffin cells
A 56-year-old woman attends her regular review. She has recently been started on insulin to control her type 2 diabetes. During the history she explains that she has lost sensation to her entire left foot and, on inspection of the foot, an ulcer is noted on the webbing between the second and third digit.
What is the next best step in the investigation of this lady’s condition?
- Full neurovascular examination of the lower limbs
- Loss of sensation and peripheral arterial disease are the two main factors contributing to diabetic foot disease
Metabolic syndrome diagnostic criteria:
- Increased waist circumference.
- Hypertension
- Impaired glucose tolerance
patient who is suffering from long standing reflux, being treated with is metoclopramide, a pro-kinetic which speeds up gastrointestinal motility by blocking the action of dopamine. The patient is now complaining of gynaecomastia and erectile dysfunction.
Which of the following hormones is most likely being over produced in this patient, resulting in his recent symptoms?
- prolactin
- prolactin is released from anterior pituitary gland and acts to stimulate breast milk formation as well as inhibits gonadal activity.
- it is most likely that the excessive prolactin production is due to blocking of dopamine receptors by metoclopramide.
Water deprivation test: cranial DI
- urine osmolality after fluid deprivation: low
Urine
Kallmans syndrom
LH and FSH low or normal
Metformin
It decreases hepatic gluconeogenesis
Luteinising hormone
Stimulates secretion of testosterone in the body.
Causes of hypercalcaemia
CHIMPANZEES
- calcium supplementation
- hyperparathyroidism
- Iatrogenic (drugs: thiazides)
- Milk alkali syndrome
- Paget disease of the bone
- Acromegaly and Addisions Disease
- Neoplasia
- Zolinger Ellison Syndrome
- Excessive vitamin D
- Excessive Vitamin A
- Sarcoidosis
Poorly controlled T2 diabetes, altered mental state. Polyuria, polydipsia, skipping insulin injections. Dehydrated with decreased skin turgor and dry oral mucosa. Mild metabolic acidosis. Insulin is avoided in hyperosmolar hyperglycaemic state due to adverse outcomes. What should be given?
0.9% sodium chloride
Common cause of hypercalcaemia in the UK
Metastatic malignancy
