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Urogenital 2 > Abnormalities of Gonads > Flashcards

Abnormalities of Gonads Flashcards

1
Q

CAH

A

Congenital adrenal hyperplasia

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2
Q

DSD

A

Disorder sexual differentiation

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3
Q

PPV

A

Patent processus vaginalis

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4
Q

CAIS

A

Complete androgen insensitivity

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5
Q

What is meant by sex of rearing?

A

Decision about what sex the child is going to be raised as.

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6
Q

What does virilized mean?

A

Virilization or masculinization is the biological development of sex differences, changes that make a male body different from a female body. Most of the changes of virilization are produced by androgens.

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7
Q

What is meant by brain sex?

A

The amount of androgen a fetus is exposed to inutero.

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8
Q

What does the SRY gene do?

A

The SRY gene provides instructions for making a protein called the sex-determining region Y protein.

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9
Q

At what point in embryological development do the gonads begin developing?

A

6 weeks

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10
Q

Where do the testes and ovary develop from?

A

Gonadal ridge

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11
Q

The wolfian duct differentiates into what?

A

Epididymis and vas deferens

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12
Q

What hormone stimulates the wolfian duct to differentiate into the epididymis and vas deferens?

A

Testosterone

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13
Q

Anti-mullerian hormone is produced by what cells?

A

Sertoli cells

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14
Q

At what point does testicular descent occur?

A

Week 23

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15
Q

Patent processus vaginalis allows communication between where?

A

A patent processus vaginalis (PPV) allows a communication between the peritoneum and scrotum.

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16
Q

How does patent processus vaginalis present?

A

Hydrocele or indirect inguinal hernia.

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17
Q

What is hydrocele?

A

Fluid in the tunica vaginalis of the testes due to a failure in closure of the processus vaginalis.

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18
Q

What is an inguinal hernia?

A

A wide open patent processus vaginalis allowing herniation of the abdominal contents into along the canal into the scrotum.

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19
Q

What is the treatment for an irreducible inguinal hernia?

A

Risk of surgery so is a surgical emergency.

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20
Q

What is the treatment for a reducible inguinal hernia?

A

They do not resolve spontaneously and so must be repaired by inguinal ligation of the sac.

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21
Q

What problems can occur with the descent of the testes?

A

Undescended testis, so they do not end up in the scrotum.

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22
Q

How are undescended testes classified?

A

Palpable / Impalpable

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23
Q

Gonadal agenesis?

A

Make no gonads

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24
Q

Hypospadias

A

Urethral meatus is in the wrong place (not on the head of the penis).

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25
Q

What is the main cause of disorders of sexual differentiation?

A

Congenital adrenal hyperplasia

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26
Q

What can under virilisation be caused by?

A

Lack of testosterone - testicular failure / leydig cell hypoplasia.
Failure to convert to DHT - 5alpha-reductase
Failure to respond to androgens - androgen receptor deficit.

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27
Q

What is congenital adrenal hyperplasia?

A

A condition in which there are enlarged adrenal glands present from birth.

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28
Q

What causes the cell proliferation and tissue growth in CAH?

A

Caused by a deficiency in an enzyme involved with steroid production. (Adrenal corticosteroid production pathway).

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29
Q

Zona glomerulosa synthesises which hormone?

A

Aldosterone

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30
Q

Pregnenolone is a precursor to what?

A

All of the hormones produced by the adrenal cortex.

Progesterone

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31
Q

What does aldosterone do?

A

Signals the kidney to reabsorb more Na+ into the blood and excrete more potassium.

Causes more water to move into the blood increasing blood volume and pressure.

32
Q

Zona fasciulata synthesises what hormone?

A

Cortisol

33
Q

Zona reticularis synthesis what hormones?

A

Androgens e.g testosterone

34
Q

What hormones is most importantly affected in CAH?

A

Low cortisol levels as a result of enzyme deficiency in conversion pathways leads to excessive ACTH production.

The excessive ACTH production causes the hyperplasia of the adrenal glands.

35
Q

What is the most common enzyme deficiency of CAH?

A

21 hydroxylase deficiency.

36
Q

A deficiency in 17alpha-hydroxylase leads to what?

A

CAH

Low androgen production causing poorly developed genitals and secondary sex characteristics.

37
Q

21 and 11beta hydroxylase deficiency leads to what symptoms in the androgen pathway?

A

Increased production in the androgen pathway causing masculisation, ambiguous genitalia and early onset of puberty in females.

38
Q

17a hydroxylase deficiency causes what symptoms in the androgen pathway?

A

Decreased production in the androgen pathway.
Males - leads to ambiguous genitalia and undescended testes.
Females - lack of secondary sex characteristics.

39
Q

21 hydroxylase deficiency leads to what symptoms in the aldosterone pathway.

A

Decreased production in the aldosterone pathway causing, salt wasting, dehydration and hypotension.

40
Q

How do 21 11beta and 17alpha hydroxylase affect the cortisol pathway?

A

Decreased production in the cortisol pathway which could lead to hypoglycaemia.

41
Q

How is congenital adrenal hyperplasia diagnosed?

A

Based on symptoms

Blood and urine tests to identify enzyme deficiencies in the adrenocorticosteroid synthesis pathway.

42
Q

How is congenital adrenal hyperplasia treated?

A

Life long steroid replacement (aldosterone, testosterone, estrogen and cortisol).
Feminising genital reconstruction.
Life long psychological support and counselling.

43
Q

Imperforate hymen

A

An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development.

44
Q

How and when is imperforate hymen diagnosed?

A

It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus causing cyclical pain.

45
Q

Transverse vaginal septum

A

A transverse vaginal septum is a horizontal “wall” of tissue that has formed during embryologic development and essentially creates a blockage of the vagina.

46
Q

Longitudinal vaginal septum

A

A longitudinal vaginal septum (LVS) is sometimes called a double vagina because it creates two vaginal cavities separated by a vertical wall of tissue.

47
Q

What problems may be seen with longitudinal vaginal septum?

A

Dyspareunia / difficulty with tampons / problems in labour

48
Q

Obstructed uterine horns

A

Uterine horn is where the uterus and fallopian tubes meet, obstruction can cause pain.

49
Q

Cervical agenesis

A

The cervix does not form

50
Q

What problems are seen in cervical agenesis?

A

Primary amenorrhoes
Abdominal pain
Haematometra

51
Q

Hematometra

A

Hematometra is a medical condition involving collection or retention of blood in the uterus.

52
Q

Mayer-Rokitansky-Kuster-Hauser

A

This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal.

53
Q

What issues occur with Mayer-Rokitansky-Kuster-Hauser?

A

Primary amenorrhoea

54
Q

Primary amenorrhoea

A

Primary amenorrhea is the failure of menses to occur by age 16 years, in the presence of normal growth and secondary sexual characteristics.

55
Q

Menorrhagia refers to

A

Heavy menstrual bleeding

56
Q

What can heavy menstrual bleeding lead to?

A

Anaemia

57
Q

How is amenorrhoea different to primary amenorrhoea?

A

Amenorrhoea is the absence of menstruation.

Primary amenorrhoea is when menstruation has not started by 16 years.

58
Q

Secondary amenorrhoea

A

When previously normal menstruation ceases for 3 or more months.

59
Q

Dysmenorrhoea (painful menstruation) is associated with what?

A

High prostaglandin levels in the endometrium causing contractions and uterine ischaemia.

60
Q

What is the genetic inheritance of CAH?

A

Autosomal recessive

61
Q

How does CAH present regarding genitalia?

A

Ambiguous genitalia at birth.

Enlarged clitoris and amenorrhoea and puberty.

62
Q

Androgen insensitivity syndrome

A

Androgen insensitivity syndrome (AIS) occurs when a male has cell receptor insensitivity to androgens, which are converted peripherally to oestrogens. The individual appears to be female; the diagnosis is only discovered when ‘she’ presents with amenorrhoea.

63
Q

Between what weeks is there bipotential in the embryo?

A

0-6weeks

64
Q

What is meant by bipotential?

A

The gonadal ridge is bipotential and can develop into an ovary or a testis.

65
Q

The gonadal ridge is derived from where?

A

Mesonephros

66
Q

Testes determining factor promotes development of the testes. What gene produces TDF?

A

Sex-determining gene Y

67
Q

The mesonephric duct develops into what in the male?

A

Ductus deferens epididymus

68
Q

Anti-mullerian hormone is secreted by what cells?

A

Sertoli cells

69
Q

Cryptochidism

A

A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.

70
Q

What problems does cryptochidism cause?

A

Undescended testes pose a problem because when they are located in the abdomen the higher temperature there is not compatible with spermatogenesis.

71
Q

What causes hypospadias?

A

Failure of the fusion of the urethral folds.

72
Q

The seminal vesicles bud off where?

A

Mesonephric duct

73
Q

When and how do the external genitalia begin to form?

A

The external genitalia begin as cloacal folds in week 5.

74
Q

How do the labia majora and scrotum form?

A

On each side of the cloacal folds genital swellings form giving rise to the labia majora or scrotum.

75
Q

What does the genital tubercle form?

A

The genital tubercle elongates to form the penis in the male or the clitoris in the female.

Urogenital 2 (22 decks)

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