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Human Developement > Diseases > Flashcards

Diseases Flashcards

1
Q

Hashimoto’s thyroiditis

A

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

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2
Q

Myxoedema

A

Hyperplasia and hypertrophy of thryroid gland

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3
Q

Grave’s Disease

A

Antibodies bind to TSH receptors and chronically activate them.

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4
Q

Toxic thyroid nodules

A

nodule growns, causing hyperthyroidism.

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5
Q

Granulomatous thyroiditis

A

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

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6
Q

Hashimoto’s thyroiditis

A

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

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7
Q

Lymphocytic thryoiditis

A

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

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8
Q

Thyroid cancer

A

Main type, papillary thyroid cancer.

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9
Q

Cushing Syndrome (hypofunction)

A

prolonged exposure to elevated cortisol due to pituitary ACTH oversecretion.

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10
Q

Addison’s disease (hyperfunction)

A

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

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11
Q

Conn’s Syndrome

A

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.

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12
Q

Phaeochromoctoma

A

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

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13
Q

Short stature

A

growth hormone deficiency, lack of love

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14
Q

Down’s Syndrome (21)

A

3 copies of chromosome 21.

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15
Q

Edward’s Syndrome (18)

A

3 copies of chromosome 18

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16
Q

Patau’s Syndrome (13)

A

3 copies of chromosome 13

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17
Q

William’s Syndrome

A

deletion at position 7q11 on chromosome 7

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18
Q

Klinefelter Syndrome

A

47 XXY - extra X chromosome in males

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19
Q

Neurofibromatosis

A

mutation in NF1 gene causing growth of benign tumors along axons

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20
Q

Duchenne Muscular Distrophy

A

x linked recessive disorder

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21
Q

Ovotesticular DSD

A

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.

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22
Q

Testicular DSD

A

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.

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23
Q

Gonadal Dysgenesis

A

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

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24
Q

Congenital Adrenal Hyperplasia

A

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.

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25
Q

Complete gonadal dysgenesis

A

low testosterone causing female external genitalia

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26
Q

Paritial gonadal dysgenesis

A

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

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27
Q

Gonadal Regression

A

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

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28
Q

Androgen insensitivity syndrome

A

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.

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29
Q

5 alpha reductase deficiency

A

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

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30
Q

Polycystic Ovarian Syndrome (PCOS)

A

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

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31
Q

Menopause

A

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

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32
Q

Premature ovarian insufficiency

A

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

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33
Q

Hypogonadotrophic hypogonadism

A

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

34
Q

Hypergonadotrophic hypogonadism

A

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

35
Q

Hormone-producing pituitary tumors

A

“functioning” tumors forms in the pituitary and produces a hormone in excess

36
Q

Hyperprolactinamia

A

excessive prolactin

37
Q

Pre eclampsia

A

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

38
Q

Gastroschisis

A

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.

39
Q

Granulomatous thyroiditis

A

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

40
Q

Lymphocytic thryoiditis

A

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

41
Q

Cushing Syndrome (hypofunction)

A

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

42
Q

Conn’s Syndrome

A

Resistant Hypertension

43
Q

Down’s Syndrome (21)

A

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

44
Q

Patau’s Syndrome (13)

A

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

45
Q

Neurofibromatosis

A

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

46
Q

Complete gonadal dysgenesis

A

Delayed puberty, amenorrhea (absence of periods)

47
Q

5 alpha reductase deficiency

A

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

48
Q

Polycystic Ovarian Syndrome (PCOS)

A

Hirsutism, infertility, irregular periods

49
Q

Hormone-producing pituitary tumors

A

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

50
Q

Pre eclampsia

A

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

51
Q

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

A

Hashimoto’s thyroiditis

52
Q

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

A

Grave’s Disease

53
Q

”

A

Toxic thyroid nodules

54
Q

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

A

Granulomatous thyroiditis

55
Q

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

A

Hashimoto’s thyroiditis

56
Q

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

A

Lymphocytic thryoiditis

57
Q

thyroid issues

A

Thyroid cancer

58
Q

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

A

Cushing Syndrome (hypofunction)

59
Q

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

A

Addison’s disease (hyperfunction)

60
Q

Resistant Hypertension

A

Conn’s Syndrome

61
Q

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

A

Phaeochromoctoma

62
Q

Disproportionate appearance, short compared to others.

A

Short stature

63
Q

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

A

Down’s Syndrome (21)

64
Q

Severe mental disability, prominent heal, micrognathia, clenched fingers

A

Edward’s Syndrome (18)

65
Q

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

A

Patau’s Syndrome (13)

66
Q

wide smile, ‘cocktail personality’

A

William’s Syndrome

67
Q

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

A

Klinefelter Syndrome

68
Q

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

A

Neurofibromatosis

69
Q

Delayed puberty, problems with menstruation

A

Gonadal Dysgenesis

70
Q

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

A

Congenital Adrenal Hyperplasia

71
Q

Delayed puberty, amenorrhea (absence of periods)

A

Complete gonadal dysgenesis

72
Q

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

A

Androgen insensitivity syndrome

73
Q

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

A

5 alpha reductase deficiency

74
Q

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

A

McCune Albright Syndrome

75
Q

Hirsutism, infertility, irregular periods

A

Polycystic Ovarian Syndrome (PCOS)

76
Q

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

A

Menopause

77
Q

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

A

Premature ovarian insufficiency

78
Q

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

A

Hormone-producing pituitary tumors

79
Q

No follicle release/ infertility

A

Hyperprolactinamia

80
Q

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

A

Pre eclampsia

81
Q

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

A

Omphalocoele

82
Q

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

A

Gastroschisis

Human Developement (5 decks)

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