Endocrine Regulation of Male fertility Flashcards

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1
Q

What is the most common cause of delayed puberty?

A

Constitutional delay (late bloomers). It is confirmed with hand/wrist X-ray to confirm bone age which will be delayed in constitutional delay

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2
Q

What is testosterone produced by and what are its functions?

A

|It is produced by Leydig cells. Its functions depends on the age of the person. It is involved in:
- Growth,
- Skeletal muscles,
- Epiphyseal plates,
- Larynx growth,
- Secondary sex characteristics
- Erythropoiesis and behavior
- In adults it is involved in muscle mass, mood, bone mass, libido, body shape, erectile function and spermatogenesis

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3
Q

What are the cells of the testes?

A
  • Leydig cells which secrete testosterone to promote sperm development.
    Sertoli cells which make up the blood testes barrier, remove damaged spermatocytes and secrete androgen binding hormone
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4
Q

What are the clinical features of hypogonadism in children and adults

A

Children - Slow growth in teens, no pubertal growth spurt, lack of secondary sexual development.
Adults - Low mood, poor libido, erectile dysfunction, hot flushes/sweats, poor muscle bulk, poor energy, sparse body/facial hair, gynaecomastia, gynoid weight gain, short phallus/reduced testicular volume and low trauma fractures

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5
Q

What are the tests for suspected hypogonadism?

A
  • Bloods: Early morning, fasting testosterone. Free testosterone (>200), total testosterone (>10) and SHBG.
  • Do LH and FSH to determine if pituitary or testicular cause
  • Others depend on testicular or pituitary pathology so can do: Semen analysis, pituitary screen/MRI, karyotyping, testicular ultrasound
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6
Q

What are the blood results/name of disorder if hypogonadism is due to pituitary or testicular cause

A

Pituitary - Hypogonadotropic hypogonadism . So there will be low LH/FSH and low testosterone.
Testicular - Hypergonadotrophic hypogonadism. High LH/FSH but low testosterone

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7
Q

What are some causes of hypogonadotrophic hypogonadism?

A
  • Pituitary disease (prolactinoma),
  • Head injury,
  • Kallmann’s
  • Functional hypothalamic hypogonadism (caused by excessive exercise, weight change, physical or psychological stress or systemic illness)
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8
Q

What is Kallmann’s syndrome?

A
  • Failure of GnRH cells to migrate to hypothalamus. It is associated with aplasia/hypoplasia of olfactory lobes, causing anosmia/hyposmia.
    May also be associated with deafness, renal agenesis and cleft lip/palate
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9
Q

What is the diagnosis and underlying genetics of Kallmann’s syndrome

A
  • Anosmia in 75%. There will be low testosterone and low FSH/LH but the rest of the pituitary function is normal. May have absent olfactory bulb.
  • Can be X-linked (KAL1), autosomal dominant (KAL2) or autosomal recessive (KAL3)
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10
Q

What are some causes of primary gonadal disease?

A
  • Chromosomal defects eg, Kleinfelters.
  • Seminiferous tubule or Leydig cell failure. May occur following trauma, chemo.
  • Cryptorchidism
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11
Q

What is Klinefelter’s syndrome

A
  • Extra X chromosome so the karyotype is 47 XXY (+/- mosaicism)
  • It is a hypergonadotrophic hypogonadism as seminiferous tubules regress and Leydig cells do not function.
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12
Q

What is the presentation and treatment of Klinefelter’s syndrome?

A
  • Delayed puberty, reduced testicular volumes, reduced secondary male sexual characteristics, persistent gynaecomastia, azospermia, behavioral issues.
  • Treat with androgen replacement (IM or topical), psychological support and fertility counselling (hCG, recombinant LH/FSH and GnRH pumps).
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13
Q

What are the side effects of testosterone replacement therapy?

A
  • Mood issues (aggression),
  • Libido issues,
  • Increased haematocrit/polycythaemia
  • Lower UT symptoms,
  • Acne,
  • Gynaecomastia
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14
Q

What are the symptoms of hypotesteronism

A

Lethargy,
Weakness,
Weight gain,
Loss of libido
Erectile dysfunction
Gynaecomastia
Depression

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15
Q

What is Kleinfelter’s syndrome

A

Chromosomal abnormality were the male has an extra X chromosome

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16
Q

What are the symptoms of Kleinfelter

A
  • Weak muscles,
  • Hypermobility,
  • Undecended testes,
  • Learning difficulties,
  • Short stature
  • Gynecomastia
  • Delayed secondary sexual characteristics,
  • Infertility,
  • Low libido