HyperL & Sex related pathology

Question 1

What is hyperlipidaemia?

Answer 1

Lipids travel within blood attached to proteins

VLDL, LDL, HDL, Chylomicrons

Question 2

What are the types of hyperlipidaemia?

Answer 2

Primary: ↑LDL only
Familial: ↑↑CVD, statins required
Secondary: Cushing’s/hypothyroid, nephrotic, OH-, anorexia

Question 3

What are the features of hyperlipidaemia?

Answer 3

Obesity
Corneal arcus
Tendon Xanthomata
Xanthomata
Xanthelasma

Question 4

How is hyperlipidaemia investigated?

Answer 4

Bloods:
Lipid profile
Tchol >7.5 + FHx of CAD = Familial
Tchol >9 = specialist
CALCULATE QRisk

Question 5

How is hyperlipidaemia managed?

Answer 5

BMI: 20-25
Diet
↑Exercise
Simvastatin 40mg ON

Question 6

When should statins be stopped?

Answer 6

LFTs x3< upper limit
OR
AST >100
STOP: If normalise & no symptoms restart at lower dose

Question 7

What is congenital adrenal hyperplasia (CAH)?

Answer 7

Family of autosomal recessive enzyme deficiencies

Impairs normal corticosteroid synthesis by adrenal cortex

Question 8

Which is the most common enzyme deficiency in CAH?

Answer 8

21-hydroxylase deficiency = 90%
Subdivided into:
-Classical: Salt-waster (Severe) or simple viriliser (moderate)
-Non-classical (mild)

Question 9

What are the Sx of CAH?

Answer 9

FTT/ ↓weight
Vomiting
Hypotension
Ambiguous genitalia:
MALE = Small testes in comparison to penis, hyper pigmented scrotum
FEMALE = Enlarged clitoris, fused labia, urogenital sinus
Hyperpigmentation
ADRENAL CRISIS

Question 10

How is CAH investigated?

Answer 10

↑serum 17-hydroxyprogesterone = DIAGNOSTIC
↑serum 11-deoxycortisol
U&E: ↑K, ↓Na, azotaemia
ABG: Metabolic acidosis
↑↑Microfilter paper radioimmunoassay for 17-hydroxyprogesterone
Rapid ACTH stimulation test
Karyotyping

Question 11

What are the salient features of classical CAH?

Answer 11

Antenatal virisisation
Progressive postnatal masculinisation
Accelerated growth
Advanced bone age
NO evidence of mineralocorticoid deficiency
SALT WASTING: Present in early life w/severe dehydration

Question 12

What are signs of hyperandrogegism in a child?

Answer 12

Precocious puberty
Early onset facial/axillary/pubic hair
Adult body odour
Rapid somatic growth
Accompanied by short adult stature (premature epiphyseal maturation & closure)

Question 13

How is CAH managed?

Answer 13

-Antenatal: Maternal 1) Dexamethasone 20mcg/kg/day in 3doses before 9w gestation
-Acute:
1) Hydrocortisone +/-
2) Somatropin +/-
3) Genital surgery
Salt-wasting: Add Fludrocortisone + NaCl

Question 14

What are the complications of CAH?

Answer 14

Adrenal crisis
Testicular adrenal rests
Short stature

Question 15

What is an adrenal crisis characterised by?

Answer 15

Azotaemia
Vascular collapse
Shock
Death
Tx: IV Hydrocortisone + IV NaCl

Question 16

What is hirsutism?

Answer 16

Condition in women

Associated w/development of androgen-dependent terminal hair following male-pattern distribution

Question 17

What are the causes of hirsutism?

Answer 17

Idiopathic
↑ Androgen levels:
-PCOS
-Hyperprolactinaemia
-Non-classical CAH
-Cushing's syndrome
-Androgenic meds
-Androgen secreting ovarian tumours (Sertoli-Leydig)

Question 18

In new-onset hirsutism what are the urgent considerations?

Answer 18

Appears over short period of time
Accompanying Cushing’s syndrome Sx
CONSIDER: Adrenal or ovarian tumour = CT abdo/pelvis + TVUS of ovaries

Question 19

What are the signs of virilisation in a woman?

Answer 19

Male-pattern baldness
Deepening voice
Clitoromegaly
Inc muscle bulk

Question 20

If hirsutism needs to be investigated what should be done?

Answer 20

Abnormal hirsutism score =
Testosterone levels
Consider: CT/MRI of adrenals