Endocrine/Reproductive Flashcards

1
Q

What is undescended testes?

A

Usually testes develop in abdomen then migrate down through inguinal canal and into scrotum.

If testes don’t make it out of abdomen they are undescended testes (aka cryptorchidism)

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2
Q

Complications of undescended testes in older children or after puberty?

A

Higher risk of testicular torsion, infertility and testicular cancer.

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3
Q

RF for undescended testes?

A
  • Fhx of undescended testes
  • Low birth weight
  • Small for gestational age
  • Prematurity
  • Maternal smoking during preggo
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4
Q

Mx of undescended testes?

A

In newborns - watch and wait as in most cases testes will descend in first 3-6 mths.
If not - Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.

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5
Q

What is testicular torsion?

A

Urological emergency - twisting of testicle around spermatic cord due to inadequate attachment of tissues within the scrotum. This leads to obstruction of blood flow to affected testicle which can result in testicular necrosis.

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6
Q

Sx of testicular torsion?

A
  • Sudden onset, severe pain in one testicle
  • The affected testicle may upwards and horizontal in the scrotum
  • Unilateral loss of cremaster reflex
  • Persistent pain despite elevation of the testicle (negative Prehn’s sign)
  • N+V due to pain
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7
Q

Ix for testicular torsion?

A

Doppler USS
Urinalysis

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8
Q

Tx of testicular torsion?

A

Bilateral orchidopexy - Fixation of both testicles.

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9
Q

What are some RF of congenital hypothyroidism?

A
  • Medication use during pregnancy
  • Maternal advanced age
  • Fhx of thyroid disease
  • Low birth weight
  • Preterm birth
  • Multiple pregnancies
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10
Q

Sx of congenital hypothyroidsim?

A
  • Prolonged neonatal jaundice
  • Poor feeding and weight gain
  • Hypothermia
  • Macroglossia
  • Large fontanelles
  • Distended abdomen with umbilical hernia
  • Dry skin
  • Hoarse cry
  • Myxoedema: coarse features, large head and oedema of extremities and genitalia
  • Bradycardia
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11
Q

Ix for congenital hypothyroidism?

A
  • Newborn screening
  • Bloods - Elevated TSH and dec. free T4
  • Imaging - thyroid USS
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12
Q

Mx for congenital hypothyroidism?

A

Thyroid hormone replacement therapy with Levothyroxine

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13
Q

Sx of delayed puberty?

A
  • Lack or delay in the development of secondary sexual characteristics
  • Primary amenorrhoea in females
  • Absent pubic/axillary hair
  • Delayed growth
  • Psychological distress associated with delayed development compared to peers
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14
Q

Ix for delayed puberty?

A

Initial Ix:
* Tanner staging - Orchidometer
* Hand-wrist X-ray of left hand to assess bone age

Further Ix:
* Endocrine function tests to rule out hypothyroidism or hypogonadotropic hypogonadism (LH, FSH)
* Genetic testing
* MRI brain

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15
Q

Tx of delayed puberty?

A
  • Short courses of low-dose testosterone
  • Gradually inc. doses of oestrogen w/ cyclical progestogen
  • Bisphosphonates - bone protection
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16
Q

SE of taking testosterone?

A

Prostate hyperplasia
Wgt gain
Erythrocytosis

17
Q

What is hypogonadism?

A

Endocrine disorder when the testes produce insufficient sex hormones (particularly testosterone).

18
Q

RF for hypogonadism?

A
  • Obesity
  • Chronic med cdtns such as T2DM and HIV
  • Certain genetic disorders
  • Prostate cancer tx
19
Q

Sx of hypogonadism?

A
  • Lethargy
  • Weakness
  • Wgt gain
  • Loss of libido
  • Erectile dysfunction
  • Gynaecomastia
  • Depression
20
Q

What is Kallmann’s syndrome?

A

A cause of delayed puberty secondary to hypogonadotropic hypogonadism - caused by failure of GnRH secreting neurons to migrate to hypothalamus.

21
Q

What kind of genetic inheritance is Kallmann’s syndrome?

A

X-linked recessive

22
Q

Sx of Kallmann’s sundrome?

A
  • Delayed puberty
  • Lack of smell (anosmia)
  • hypogonadism, cryptorchidism
  • Low sex hormones
  • LH, FSH levels low
  • Low fertility levels
23
Q

Mx of Kallmann’s syndrome?

A

To induce/maintain fertility:
* For males - Testosterone replacement therapy (TRT)
* For females - Oestrogen replacement therapy + progestogen

To restore fertility:
* For males - Gonadotropin therapy or gonadotropins (hCG + FSH)
* For females - Ovulation induction therapy + gonadotropins

24
Q

What is congenital adrenal hyperplasia?

A

Collection of autosomal recessive disorders characterised by impaired steroid hormone synthesis within adrenal cortex due to enzyme defects

25
Q

What are some examples of steroid hormones?

A
  • Testosterone
  • Glucocorticoid hormones - i.e. cortisol
  • Mineralocorticoid hormones - i.e. aldosterone
26
Q

Sx of congenital adrenal hyperplasia?

A

Classical form:
* Virilised (ambigious) genitalia - esp. females

Salt-wasting crises:
* Dehydration + vomiting
* Hyponatraemia
* Hyperkalaemia
* Metabolic acidosis

High androgen (testosterone) sx:
* Tall for their age
* Facial hair
* Absent periods - females
* Deep voice
* Early puberty
* Large penis/small testicles - males

27
Q

Ix for congenital adrenal hyperplasia?

A
  • GS - Corticotropin stimulation test
  • Bloods - 17-hydroxyprogesterone and ACTH (elevated) + cortisol (low)
28
Q

Mx of congenital adrenal hyperplasia?

A
  • Cortisol replacement - hydrocortisone
  • Aldosterone replacement - fludrocortisone

Possible correction surgery for females with virilised genitals

29
Q

What is androgen insensitivity syndrome?

A

End-organ resistance to testosterone causing genetically male children (with XY chromosome) to have a female phenotype externally (testicular feminisation syndrome)

30
Q

What kind of genetic inheritance is androgen insensitivity hormone?

A

X-linked recessive

31
Q

What private body parts does someone with androgen insensitivity have and doesn’t have?

A

Have:
* Testes in abdo or inguinal canal

Don’t have:
* Uterus
* Upper vagina
* Cervix
* Fallopian tubes
* Ovaries
This is bec the female internal organs do not develop bec testes produce anti-Mullerian hormone which prevents males from developing upper vagina, uterus, cervix and fallopian tubes.

32
Q

Anti-Müllerian Hormone:
1. What is it responsible for?
2. Role in males?
3. Role in females?

A
  1. Precursors to female reproductive organs
  2. AMH is secreted around 8th wk of developement - causes regression of Mullerian ducts to prevent development of female reproductive organs.
  3. AMH very low during foetal development so Müllerian ducts naturally develop into the female reproductive tract (fallopian tubes, uterus, etc.).
33
Q

Wolffian Hormone (androgens):
1. What is it?
2. Role in males?
3. Role in females?

A
  1. Produced by Leydig cells in testes of males (mainly testosterone and dihydrotestosterone (DHT)) and it is responsible for development of Wolffian ducts into male internal reproductive structures.
  2. Stimulate the Wolffian ducts to develop into male reproductive organs: epididymis, vas deferens, seminal vesicles, and ejaculatory ducts. DHT is crucial for external male genitalia (penis and scrotum).
  3. Absent so Wolffian ducts naturally regress and Müllerian ducts develop instead.
34
Q

Sx of androgen insensitivity syndrome?

A
  • In infancy - can present with inguinal hernias containing testes
  • Primary amenorrhoea
  • little or no axillary and pubic hair
35
Q

Hormone test results in androgen insensitivity syndrome in the following:
1. LH
2. FSH
3. Testosterone
4. Oestrogen

A
  1. Raised LH
  2. Normal or raised FSH
  3. Normal or raised testosterone levels (for a male)
  4. Raised oestrogen levels (for a male)
36
Q
A