Menstrual cycle and sexual differentiation Flashcards

1
Q

Hypogonadism can lead to what?

A

Delayed puberty and the developement of sexual characteristics.

  • can lead to infertility.
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2
Q

What is the cause of primary hypogonadism?

A

Dysfunction of the gonads e.g gonad receptors may not respond to gonadotropin hormones.

Can be due to radiation and chemotherapy or trauma to the gonads.

Genetic conditions such as kleinfelter or Turner’s syndrome can cause hypogonadism.

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3
Q

Hypogonadism presents with what hormone abnormalities?

A

Decreased testosterone in males.

Decreased oestrogen and progesterone in females.

  • this means there is no negative feedback on the hypothalamus leading to overproduction of LH and FSH.
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4
Q

What are the causes of secondary hypogonadism?

A

Due to low LH and FSH levels which can be due to hypothalamus / pituitary dysfunction.

  • can be due to lack of production or inhibition from prolactin / thyroid hormones.
  • can be due to chemotherapy / radiation or trauma.
  • tumour of the pituitary / hypothalamus
  • chronic cystic fibrosis
  • Kallman syndrome / Panhypopituitarism/
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5
Q

What is constitutional delay in hypogonadism?

A

Temporary delay in puberty and does not cause infertility.

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6
Q

What is considered delayed puberty?

A

Not starting puberty by 13 in a female.

Not starting puberty by 14 in a male.

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7
Q

Clinical presentation of female hypogonadism:

A
  • Failure to go through puberty
  • Primary amenorrhoea (16 years of age)
  • Change in menstrual pattern
  • Secondary amenorrhoea (for at least 6 months)
  • Infertility • Osteopenia / osteoporosis / fragility fractures
  • Symptoms of estrogen deficiency

– Hot flushes

– fluctuation in E2 levels

– Sexual dysfunction

– dyspareunia, reduced libido

– Mood changes

– Urinary symptoms

– atrophy of urethral & bladder mucosa

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8
Q

Oligomenorrhoea

A

Oligomenorrhoea (>35 days; <9 cycles/ year)

Oligomenorrhea is a condition in which you have infrequent menstrual periods.

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9
Q

Menorrhagia

A

Menorrhagia is the medical term for menstrual periods with abnormally heavy or prolonged bleeding.

  • can lead to anaemia.
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10
Q

Dysmenorrhea

A

Dysmenorrhea, also known as painful periods or menstrual cramps, is pain during menstruation. Its usual onset occurs around the time that menstruation begins. Symptoms typically last less than three days. The pain is usually in the pelvis or lower abdomen.

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11
Q

Polymenorrhea

A

Polymenorrhea is a term used to describe a menstrual cycle that is shorter than 21 days. A normal menstrual cycle is between 24 and 38 days long. Polymenorrhea is just one form of abnormal uterine bleeding.

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12
Q

Primary amenorrhoea

A

• Primary amenorrhoea: absent menstrual period by 16 years

– genetic or chromosomal abnormalities

– abnormalities of the reproductive organs

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13
Q

Secondary Amenorrhoea

A

• Secondary amenorrhoea: absent periods for 6 months

– polycystic ovary syndrome (PCOS)

– ovarian insufficiency

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14
Q

What is the commonest cause of oligomenorrhoea?

A

PCOS

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15
Q

Causes of amenorrhoea / oligomenorrhoea:

A
  • Hypothalamic causes:
    • Infiltration
    • Congenital GnRH def.
    • Eating disorders
    • Stress
    • Exercise
    • Weight loss
  • Pituitary causes
    • Hyperprolactinemia
    • Pituitary infarction / infiltration
    • Prolactinoma
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16
Q

Male Hypogonadism summary:

A
17
Q

Functional relationships in the HPT axis & testicular microenvironment in men:

A
18
Q

How is testosterone present in the circulation?

A

33% bound to albumin

65% bound to SHBG

2% biologically available for use in the circulation

19
Q

Male Hypogonadism summary:

A
20
Q

Causes of Primary Hypogonadism:

A
  1. Destruction of testicular tissue - Testicular torsion, orchidectomy trauma, tumour, orchitis.
  2. Cryptorchidism.
  3. Klinefelter syndrome.
21
Q

Prader–Willi syndrome

A

Prader-Willi syndrome is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural problems. It’s usually noticed shortly after birth.

22
Q

What are the symptoms of Prader-Willi syndrome?

A
  • an excessive appetite and overeating, which can easily lead to dangerous weight gain
  • restricted growth (children are much shorter than average)
  • floppiness caused by weak muscles (hypotonia)
  • learning difficulties
  • lack of sexual development
  • behavioural problems, such as temper tantrums or stubbornness
23
Q

What are the benefits of testosterone replacement?

A
  • Induction of puberty (between 12 to 14 yrs)
  • Development of secondary sexual characters
  • Improvement in libido & sexual function
  • Improvement in BMD
  • Improvement in muscle mass & strength
  • Improvement in quality of life
24
Q

What are the side effects of testosterone replacement?

A
  • Acne – truncal
  • Gynaecomastia
  • Priapism
  • Increased libido
  • Erythrocytosis
  • Prostate symptoms (LUTS).
25
Q

Symptoms of androgen deficiency in men:

A

Erectile dysfunction, lack of libido and gynaecomastia.

26
Q

Hypothalamic-pituitary gonadal axis:

A
27
Q

The male genitals are formed at what point in embryonic development?

A

12weeks/40

28
Q

How does the Y chromosome determine gender?

A

The default pathway for all of us is to develop as female it is only the presence of the Y chromosome that has the SRY region that will switch development to male. The SRY region codes for a testis determining factor (TDF) that switches development of the primitive, bipotential gonad down the male route. In the absence of a functional Y-chromosome with SRY (testis determining factor, TDF) activity, the early embryo will otherwise develop as female.

The Y chromosome has its main action around six weeks of embryogenesis when it causes development of the by potential gonad to differentiate as a testis.

29
Q

What can cause someone to be interesex?

A
  1. They may be missing genes that encode for specific characteristics.
  2. They may have to much or to little sex hormone.
  3. They may have to many or to few receptors that the sex hormones bind to.
30
Q

Endocrine causes of intersex:

A
  • Hormones virilise external genitalia to male
  • Defect may occur anywhere from hypothalamus (GnRH) to end-organ receptor
  • Lack of androgen effect
  • Undescended testes, lack of labial fusion, micropenis, hypospadias
  • Excess androgen effect
  • Virilization of female
  • Male – labial fusion, clitoral hypertrophy
  • Premature puberty, macro-orchidism, excess hair
  • Other effects – salt wasting, adrenal collapse
31
Q

Development of genitalia

A
32
Q

Complete androgen insensitivity syndrome (CAIS)

A

Is an X-linked condition in which a child does not produce the appropriate androgen receptor on the external cell membrane. An affected child will develop testes which secrete the androgen, testosterone – all normal so far for a child that is 46,XY. But a child with AIS does not respond to their testosterone because they lack the appropriate cell membrane androgen receptor.

33
Q

How does someone with 46XY CAIS present?

A
  • phenotypically female, but 46,XY
  • inguinal herniae, testes, secreting testosterone • but androgen receptor fails to respond
  • failure of virilization and no brain effect
  • female gender effect
  • but MIF leads to absent Müllerian structures
  • no uterus and short, blind ending vagina
  • no periods, absent pubic and axillary hair
34
Q

How does Partial AIS present?

A
  • 46,XY with partial, incomplete virlization
  • variable micropenis, hypospadias
  • incompletely fused labia
  • MIS produced so no Müllerian structures
  • androgen = testosterone, dihydrotestosterone
  • 5alpha-reductase deficiency in 46,XY results in a child with normal testes, small penis, clitoris
  • scrotum, labia majora
  • but at puberty, testosterone surge completes male development and fertility