Endocrine and reproductive Flashcards

1
Q

What are the complications of undescended testes?

A
  1. Infertility
  2. Torsion
  3. Testicular cancer
  4. Psychological
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2
Q

What is the management of undescended testes?

A

Unilateral undescended testis
Referral should be considered from around 3 months of age, Urological surgeon before 6 months of age

Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age

Bilateral undescended testes
Should be reviewed by a senior paediatrician within 24hours

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3
Q

What are the different types of growth?

A

Infancy (birth to 2-years-old)

Childhood (3 to 11-years-old)

Puberty (12 to 18-years-old)

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4
Q

What factors is growth driven by?

A

Environmental: this is the most important factor affecting fetal growth e.g. maternal nutrition and uterine capacity

Placental

Hormonal

Genetic: predominately maternal

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5
Q

What monitoring of growth should be done and when?

A

Infants aged 0-1 years
5 recordings of weight

Children aged 1-2 years
3 recordings of weight

Children older than 2 years
Annual recording of weight

Children below 2nd centile
Reviewed by their GP

Children below 0.4th centile
Should be reviewed by a paediatrician

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6
Q

What are the symptoms of hypothyroidism in children?

A
  1. Yellowing of the skin and whites of the eyes (jaundice).
  2. A large, protruding tongue.
  3. Difficulty breathing.
  4. Hoarse crying.
  5. An umbilical hernia.
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7
Q

What is the cause of hypothyroidism?

A
  1. Autoimmune disease
    • Hashimoto’s thyroiditis
  2. Worldwide
    • Iodine deficiency
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8
Q

What is the diagnosis of hypothyroidism?

A

Blood tests

Low thyroxine and high TSH

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9
Q

What is the treatment of hypothyroidism?

A
  1. Levothyroxine
  2. Interacts with
    • Iron, calcium carbonate
    • Absorption of levothyroxine reduced, give at least 4 hours apart
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10
Q

What is Klinefelter’s syndrome?

A

Klinefelter’s syndrome is associated with karyotype 47, XXY

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11
Q

What are the features of Klinefelter’s syndrome?

A
  1. Often taller than average
  2. Lack of secondary sexual characteristics
  3. Small, firm testes
  4. Infertile
  5. Gynaecomastia - increased incidence of breast cancer
  6. Elevated gonadotrophin levels
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12
Q

How do you diagnose Klienfelter’s syndrome?

A

Chromosomal analysis

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13
Q

What is Kallman’s syndrome (hypogonadotropic hypogonadism)?

A

Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism

+ impaired snese of smell

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14
Q

What is the cause of Kallman’s syndrome?

A

It is usually inherited as an X-linked recessive trait.

Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.

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15
Q

What are the features of Kallman’s syndrome?

A
  1. ‘Delayed puberty’
  2. Hypogonadism, cryptorchidism
  3. Anosmia
  4. Sex hormone levels are low + LH, FSH levels are inappropriately low/normal
  5. Patients are typically of normal or above average height
  6. Cleft lip/palate and visual/hearing defects are also seen in some patients
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16
Q

How do you diagnose Kallman’s syndrome?

A
  1. Lack of sexual maturation
  2. Altered sense of smell
  3. Genetic testing
  4. LOW TESTOSTERONE
  5. LOW LH/FSH
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17
Q

What is the treatment of Kallman’s syndrome?

A
  1. Hormone replacement therapy (testosterone or oestrogen)
  2. Bone mineral density
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18
Q

What is androgen insensitivity syndrome?

A

X-linked recessive condition

Due to end-organ resistance to testosterone

Causing genotypically male children (46XY) to have a female phenotype.

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19
Q

What are the features of androgen insensitivity syndrome?

A

‘Primary amenorrhoea’

External genitalia is feminine but vagina is blind ending, no ovaries or uterus

Undescended testes causing groin swellings

Breast development may occur as a result of conversion of testosterone to oestradiol

20
Q

What is the diagnosis of androgen insensitivity syndrome?

A

Buccal smear or chromosomal analysis to reveal 46XY genotype

21
Q

What is the management of androgen insensitivity syndrome?

A
  1. Counselling - raise child as female
  2. Bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
  3. Oestrogen therapy
22
Q

What is the first sign of pubery in males and when does the height spurt happen?

A
  1. First sign is testicular growth at around 12 years of age (range = 10-15 years)
  2. Testicular volume > 4 ml indicates onset of puberty
  3. Maximum height spurt at 14
23
Q

What is the first sign of puberty in females and when does menarche occur?

A

irst sign is breast development at around 11.5 years of age (range = 9-13 years)

height spurt reaches its maximum early in puberty (at 12) , before menarche

menarche at 13 (11-15)

there is an increase of only about 4% of height following menarche

24
Q

What are some normal changes in puberty?

A

Gynaecomastia may develop in boys

Asymmetrical breast growth may occur in girls

Diffuse enlargement of the thyroid gland may be seen

25
Q

What is congenital adrenal hyperplasia?

A
  1. Group of autosomal recessive disorders
  2. Affect adrenal steroid biosynthesis

Two principal effects result from the enzyme deficiency:

  1. Deficient cortisol and/or aldosterone production
  2. Excess precursor steroids
26
Q

What ist the cause of congenital adrenal hyperplasia?

A

21-hydroxylase deficiency (90%)

11-beta hydroxylase deficiency (5%)

17-hydroxylase deficiency (very rare)

27
Q

What are the symptoms of congenital adrenal hyperplasia?

A
  1. Classic CAH
    • Female
    • Ambiguous genitalia
    • Male
    • Normal appearing genitals.
    • Appearance of pubic hair at a very early age
    • Rapid growth during childhood, but shorter than average final height
  2. Nonclassic CAH
    • Irregular or absent menstrual periods
    • Masculine characteristics such as facial hair, excessive body hair and a deepening voice
    • Severe acne
    • In both females and males, signs of nonclassic CAH may also include:
    • Early appearance of pubic hair
    • Rapid growth during childhood, an advanced bone age and shorter predicted final height
28
Q

How do you diagnose congenital adrenal hyperplasia?

A
  1. Hyponatremia - NO ALDOSTERONE
  2. Hyperkalaemia - NO ALDOSTERONE
  3. Metabolic acidosis
  4. Hypoglycaemia - NO CORTISOL

NO CORTISOL + ALDOSTERONE

29
Q

What is the treatment of congenital adrenal hyperplasia?

A

Hydrocortisone
Replace cortisol

Fludrocortisone
Salt-retaining steroid such as

30
Q

What is the treatment of a salt losing crisis in congenital adrenal hyperplasia?

A
  1. Intravenous saline
  2. Glucose
  3. Hydrocortisone
31
Q

WHAT IS TESTICULAR TORSION?

A

Testicular torsion happens when a spermatic cord becomes twisted, cutting off the flow of blood to the attached testicle.

32
Q

What are the symptoms of testicular torsion?

A

Sudden onset of pain in one testis, which makes walking uncomfortable. Pain in the abdomen, nausea, and vomiting are common.

33
Q

What are the signs of testicualr torsion?

A

Inflammation of one testis—it is very tender, hot, and swollen. The testis may lie high and transversely.

34
Q

What are the differential diagnosis of testicular torsion?

A

Epididymo-orchitis

Tumour

Hydrocele

35
Q

What are the tests for testicular torsion?

A

Cremasteric reflex is lost

Elevation of the testis does not ease the pain (Prehn’s sign)

Surgical exploration

36
Q

What are the treatments for testicular torsion?

A
  1. Urgent surgical exploration
    • If a torted testis is identified then both testis should be fixed as the condition of bell clapper testis is often bilateral
  2. Can untwist on its own
37
Q

WHAT IS PRECOCIOUS PUBERTY?

A

Development of secondary sexual characteristics before 8 years in females and 9 years in males’

more common in females

38
Q

What does thelarche and adrenarche mean?

A
  1. Thelarche (the first stage of breast development)
  2. Adrenarche (the first stage of pubic hair development)
39
Q

What are the different types of prococious puberty?

A
  1. Gonadotrophin dependent (‘central’, ‘true’)
    - Due to premature activation of the hypothalamic-pituitary-gonadal axis
    - FSH & LH raised
  2. Gonadotrophin independent (‘pseudo’, ‘false’)
    - Due to excess sex hormones
    - FSH & LH low
40
Q

What are the causes of precocious puberty?

A
  1. Males - uncommon and usually has an organic cause
    • Testes
    • Bilateral enlargement = gonadotrophin release from intracranial lesion
    • Unilateral enlargement = gonadal tumour
    • Small testes = adrenal cause (tumour or adrenal hyperplasia)
  2. Females - usually idiopathic or familial and follows normal sequence of puberty
    • Organic causes
    • Are rare, associated with rapid onset, neurological symptoms and signs and dissonance
    • e.g. McCune Albright syndrome
41
Q

What are investigation for precocious puberty?

A
  1. Sex hormones
  2. Pituitary hormones
    FSH + LH, High in true, Low in flase
  3. Bone age
  4. LHRH stimulation test
  5. CT for visualisation of the pituitary stalk
42
Q

What is the treatment of precocious puberty?

A
  1. GnRH dependent precocious puberty
    GnRH analogues - goserelin, leuprorelin
  2. GnRH indepdendent precocious puberty
    Depends on underlying cause
43
Q

WHAT IS GONADOTROPIN DEFICIENCY?

A

Gonadotrophin deficiency usually involves both LH and FSH but rarely affects either alone.

44
Q

What is the difference between gonadotrophin deficiency and familial late puberty?

A
  1. The differentiation is difficult before the age of 16.
  2. In the familial condition there is usually a family history and some modest penile and breast development.
45
Q

What are the clinical features of gonadotrophin deficiency?

A

Delayed puberty

Diagnostic clues for the male include:
Micropenis
Cryptorchidism

46
Q

WHAT ARE SOME CAUSES OF OBESITY IN CHILDREN?

A
  1. Growth hormone deficiency
  2. Hypothyroidism
  3. Down’s syndrome
  4. Cushing’s syndrome
  5. Prader-Willi syndrome
47
Q

What are some consequences of obesity in children?

A
  1. Orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
  2. Psychological consequences: poor self-esteem, bullying
  3. Sleep apnoea
  4. Benign intracranial hypertension
  5. Long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease