Diseases

Question 1

Hashimoto’s thyroiditis

Answer 1

Autoimmune disease - antibodies to thyroglobulin (synthesis pathway) or thyroid peroxidase (enzyme in hormone synthesis pathway)

Question 2

Myxoedema

Answer 2

Hyperplasia and hypertrophy of thryroid gland

Question 3

Grave’s Disease

Answer 3

Antibodies bind to TSH receptors and chronically activate them.

Question 4

Toxic thyroid nodules

Answer 4

nodule growns, causing hyperthyroidism.

Question 5

Granulomatous thyroiditis

Answer 5

Self-limited inflammation of the thyroid gland. It is triphasic with an initial thyrotoxicosis, followed by a hypothyroidism and a return to normal function

Question 6

Hashimoto’s thyroiditis

Answer 6

Autoimmune disease - antibodies to thyroglobulin (synthesis pathway) or thyroid peroxidase (enzyme in hormone synthesis pathway)

Question 7

Lymphocytic thryoiditis

Answer 7

Autoimmune mediated inflammation of thryoid gland with release of thyroid hormone. Followed by a phase of hypothroidism

Question 8

Thyroid cancer

Answer 8

Main type, papillary thyroid cancer.

Question 9

Cushing Syndrome (hypofunction)

Answer 9

prolonged exposure to elevated cortisol due to pituitary ACTH oversecretion.

Question 10

Addison’s disease (hyperfunction)

Answer 10

chronic adrenal issuficiency due to destruction of adrenal cortex (primary) or insufficient ACTH production in ant. pituitary (secondary). Could be caused by abrubt steroid disontinuations

Question 11

Conn’s Syndrome

Answer 11

primary hyperaldosteronism (in the zona glomerulosa of the adrenal gland) causing hypersecretion of aldosterone independent of the Renin-Angiotensin system. This causes excessive fluid and salt retention and increased potassium secretion.

Question 12

Phaeochromoctoma

Answer 12

Tumore of the adrenal medulla causing increased secretion of adrenaline or noradrenaline. (10% bilateral, 10% malignant, 25% genetic condition)

Question 13

Short stature

Answer 13

growth hormone deficiency, lack of love

Question 14

Down’s Syndrome (21)

Answer 14

3 copies of chromosome 21.

Question 15

Edward’s Syndrome (18)

Answer 15

3 copies of chromosome 18

Question 16

Patau’s Syndrome (13)

Answer 16

3 copies of chromosome 13

Question 17

William’s Syndrome

Answer 17

deletion at position 7q11 on chromosome 7

Question 18

Klinefelter Syndrome

Answer 18

47 XXY - extra X chromosome in males

Question 19

Neurofibromatosis

Answer 19

mutation in NF1 gene causing growth of benign tumors along axons

Question 20

Duchenne Muscular Distrophy

Answer 20

x linked recessive disorder

Question 21

Ovotesticular DSD

Answer 21

In females, can be caused by mosaic form of SRY gene. In males, can be caused by variants of the SRY gene. In both cases it is when there is a developement of both mullerian and wolffian ducts. The extent to which this will happen will depend on testosterone and AMH hormone.

Question 22

Testicular DSD

Answer 22

In XX 46 patients, when the path of developement goes to wolffian ducts and testes. Usually born with ambiguous genitalia, gynaecomastia, small testes and infertility.

Question 23

Gonadal Dysgenesis

Answer 23

in XX 46 patients, when there is a failure in gonad developement

Question 24

Congenital Adrenal Hyperplasia

Answer 24

In XX 46 patients, caused by enzyme 21 - hydroxilase defficiency. It is responsible for the conversion og progesterone to aldosterone and cortisol. But when it does not work the products build up and are transferred to the testosterone producing pathway. This causes excesses testosterone to be produced.

Question 25

Complete gonadal dysgenesis

Answer 25

low testosterone causing female external genitalia

Question 26

Paritial gonadal dysgenesis

Answer 26

abnormal developement of testes, low testosterone. Ambiguous external genitalia. Potential genetic cause in NR5A1/MAP3K1.

Question 27

Gonadal Regression

Answer 27

Complete regression of the testicular tissue. Degree of masculanization will depend on the duration of the testicular function prior to regression.

Question 28

Androgen insensitivity syndrome

Answer 28

Normal pathway of developement, where undifferentiated gonad differentiates into a testes and produces AMH, so mullerian ducts are inhibited. But the androgen receptors are not working so developement of wolffian ducts is incomplete.

Question 29

5 alpha reductase deficiency

Answer 29

enzyme makes testosterone into DHT (more potent) so external genitalia can be either male or female in appearance.

Question 30

Polycystic Ovarian Syndrome (PCOS)

Answer 30

Large underdevelopped fluid filled follicles preventing the grwoth and release of eggs. Associated with insulin hyposensitivity, causing hyperinsulinaemia, causing excessive ovarian and adrenal androgen secretion

Question 31

Menopause

Answer 31

Exhaustion of gametes and sudden fall of fertility due to running out of eggs. Defined as the last menstrual period after 1 year. The hypo-oestrogenism explains many of the symptoms of the menopause

Question 32

Premature ovarian insufficiency

Answer 32

Caused by a stop in egg release and ovarian failure before the age of 40

Question 33

Hypogonadotrophic hypogonadism

Answer 33

Secondary hypogonadism (low secretion of androgen/ oestrogens) due to pituitary (low LH/ FSH) or hypothalamic (low GnRH) disfunction.

Question 34

Hypergonadotrophic hypogonadism

Answer 34

Primary hypogonadism (Low androgens/ eostrogen) due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).

Question 35

Hormone-producing pituitary tumors

Answer 35

"functioning" tumors forms in the pituitary and produces a hormone in excess

Question 36

Hyperprolactinamia

Answer 36

excessive prolactin

Question 37

Pre eclampsia

Answer 37

failure of normal trophoblast invasion causing maladaptation of spiral arteries. systemic response is vasoconstriction. so liver, kidney, cerbral problems and pulmonary oedema.

Question 38

Gastroschisis

Answer 38

The lack of a protective sac in gastroschisis exposes the intestines to amniotic fluid in utero, leading to a thick inflammatory film or peel overlying the intestine and causing delay of return of normal bowel function after closure.

Question 39

Granulomatous thyroiditis

Answer 39

Initial stage: neck pain, tender and firm enlarged thyroid, palpitations, fever.

Question 40

Lymphocytic thryoiditis

Answer 40

Heat intolerance, nervousness, small non-tender goitre, tremulousness

Question 41

Cushing Syndrome (hypofunction)

Answer 41

increased appetite, susceptibility to infection, bruising, thinning of limbs/ skin, central fat deposition, weight gain, fatigue, purple striae on abdo and arms.

Question 42

Conn's Syndrome

Answer 42

Resistant Hypertension

Question 43

Down's Syndrome (21)

Answer 43

Flat nasal bridge, protruding tongue, sadal gap, mild to moderate learning difficulties

Question 44

Patau's Syndrome (13)

Answer 44

cleft lip/ palate, postaxial polydactyly (many toes).

Question 45

Neurofibromatosis

Answer 45

Scoliosis, cafe au lait spots, bone defects, optic nerve glioma

Question 46

Complete gonadal dysgenesis

Answer 46

Delayed puberty, amenorrhea (absence of periods)

Question 47

5 alpha reductase deficiency

Answer 47

Small penis, efemale genitalia, changes occur in puberty and virilisation usually occur.

Question 48

Polycystic Ovarian Syndrome (PCOS)

Answer 48

Hirsutism, infertility, irregular periods

Question 49

Hormone-producing pituitary tumors

Answer 49

PROLACTIN: amenorrheoa, galactoroea. GH: acromegaly. TSH: hyperthyroid. ACTH: cushing's

Question 50

Pre eclampsia

Answer 50

Headache, upper abdominal pain, visual disturbances, breathlessness, seizures, oliguria

Question 51

tired,cold, weight gain, constipation, bradycardia, coarse hair & skin, macroglossia, no shaving

Answer 51

Hashimoto's thyroiditis

Question 52

Nervousness, anxiety, sweating, heat intolerance, palpitations, fatigue, weight loss, eyelid lag, diarrhoea, tremors,

Answer 52

Grave's Disease

Question 53

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Answer 53

Toxic thyroid nodules

Question 54

Initial stage: neck pain, tender and firm enlarged thyroid, palpitations, fever.

Answer 54

Granulomatous thyroiditis

Question 55

tired,cold, weight gain, constipation, bradycardia, coarse hair & skin, macroglossia, no shaving

Answer 55

Hashimoto's thyroiditis

Question 56

Heat intolerance, nervousness, small non-tender goitre, tremulousness

Answer 56

Lymphocytic thryoiditis

Question 57

thyroid issues

Answer 57

Thyroid cancer

Question 58

increased appetite, susceptibility to infection, bruising, thinning of limbs/ skin, central fat deposition, weight gain, fatigue, purple striae on abdo and arms.

Answer 58

Cushing Syndrome (hypofunction)

Question 59

Weakness, fatigue, anorexia, diffuse hyperpigmentation, postural hypotension, GI symptoms. loss of body hairWeight loss, malaise, diarrhoea, nausea. vomiting, low BP.

Answer 59

Addison's disease (hyperfunction)

Question 60

Resistant Hypertension

Answer 60

Conn's Syndrome

Question 61

Headache, palpitations, sense of doom, chest pain, sweating, weight loss.

Answer 61

Phaeochromoctoma

Question 62

Disproportionate appearance, short compared to others.

Answer 62

Short stature

Question 63

Flat nasal bridge, protruding tongue, sadal gap, mild to moderate learning difficulties

Answer 63

Down's Syndrome (21)

Question 64

Severe mental disability, prominent heal, micrognathia, clenched fingers

Answer 64

Edward's Syndrome (18)

Question 65

cleft lip/ palate, postaxial polydactyly (many toes).

Answer 65

Patau's Syndrome (13)

Question 66

wide smile, 'cocktail personality'

Answer 66

William's Syndrome

Question 67

Taller than average, reduced hair, breast developement, small testis, osteoporosis

Answer 67

Klinefelter Syndrome

Question 68

Scoliosis, cafe au lait spots, bone defects, optic nerve glioma

Answer 68

Neurofibromatosis

Question 69

Delayed puberty, problems with menstruation

Answer 69

Gonadal Dysgenesis

Question 70

Virilisation of external genitalia. Can be medical emergency because of salt wasting

Answer 70

Congenital Adrenal Hyperplasia

Question 71

Delayed puberty, amenorrhea (absence of periods)

Answer 71

Complete gonadal dysgenesis

Question 72

External female genitalia, masses in the inguinal canal. You can see a female phenotype

Answer 72

Androgen insensitivity syndrome

Question 73

Small penis, efemale genitalia, changes occur in puberty and virilisation usually occur.

Answer 73

5 alpha reductase deficiency

Question 74

Peripheral precocious puberty, irregular cafe au lait spots, fibrous dysplasia of bone

Answer 74

McCune Albright Syndrome

Question 75

Hirsutism, infertility, irregular periods

Answer 75

Polycystic Ovarian Syndrome (PCOS)

Question 76

Hot flush/ night sweats, headaches, palpitations, leg cramps, urogenital symptoms, reduced libido, mood changes. Long term consequences include osteoporosis, cardiovascular diseases, alzheimers

Answer 76

Menopause

Question 77

Menopausal symptoms. Amenorrhea for 4 months compined with high FSH and women less than 40 years. Risks include cardiovascular, psychological, osteoporisis

Answer 77

Premature ovarian insufficiency

Question 78

PROLACTIN: amenorrheoa, galactoroea. GH: acromegaly. TSH: hyperthyroid. ACTH: cushing's

Answer 78

Hormone-producing pituitary tumors

Question 79

No follicle release/ infertility

Answer 79

Hyperprolactinamia

Question 80

Headache, upper abdominal pain, visual disturbances, breathlessness, seizures, oliguria

Answer 80

Pre eclampsia

Question 81

Intestines herniating outside abdominal cavity, with a sac around them.

Answer 81

Omphalocoele

Question 82

Intestines herniating outside abdominal cavity, without a sac around them.

Answer 82

Gastroschisis