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Year 5 - Paediatrics > Growth disorder (constitutional delay, precocious/delayed puberty, premature thelarche/adrenarche/menarche, skeletal dysplasia) > Flashcards

Growth disorder (constitutional delay, precocious/delayed puberty, premature thelarche/adrenarche/menarche, skeletal dysplasia) Flashcards

1
Q

What are the four phases of normal human growth and how much do each contribute to final height?

A
  1. Fetal - 30% - IGF-2, human placental lactogen and insulin.
  2. Infantile phase - 15% - adequate nutrition, healthy thyroid
  3. Childhood phase - 40% - GH –> IGF-1 at the epiphyses, adequate nutrition, Vit D, thyroid hormone, steroids.
  4. Pubertal growth spurt - 15% - sex hormones (testosterone, oestradiol –> boost in GH)

Males have longer childhood growth phase and their peak velocity for growth is higher.

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2
Q

What is the effect of chronic unhappiness on growth?

A

In the childhood phase it can cause a decrease in GH –> psychosocial short stature

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3
Q

What is the impact of low birth weight on later metabolic function?

A

Low birthweight increases later metabolic risk of childhood obesity

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4
Q

What is ‘faltering growth’?

A

Inadequate rate of groth during the infantile phase of normal growth.

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5
Q

List 4 aspects of growth which are routinely measured.

A
  1. Height - if under 2yrs, then measured lying horizontally, ensure to callibrate equipment
  2. Weight - electronic scales, no nappy
  3. Head circumference - occipito frontal circumference
  4. BMI - m2/kg, use gender specific BMI centile chart

NB: all measurements plotted as a single dot.

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6
Q

Give 3 reasons for why adult males are generally taller than females.

A
  1. Longer childhood growth phase
  2. Peak height velocity is greater
  3. Growth ceases later
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7
Q

When does fusion of epiphyseal growth plates occur? What if puberty occurs early?

A

Pubertal growth spurt

If puberty is early, which is not uncommon in girls, the final height is reduced because of early fusion of the epiphyses.

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8
Q

What are the physiological changes that occur during male puberty?

A
  1. Testicular enlargement - to over 4mL volume measured using orchidometer (first sign)
  2. Pubic hair growth - between 10-14 years, follows (1)
  3. Rapid height growth - when testicular volume is 12-15mL, after about 18 months. This is later in males than females and occurs with greater magnitude –> greater final height.

Penile growth also occurs.

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9
Q

What are the Tanner stages of puberty?

A
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10
Q

What are the physiological changes during female puberty?

A

Female features of puberty:

  1. Breast development - 8.5-12.5 years show a palpable breast disc (f_irst sign_)
  2. Pubic hair growth and rapid height growth - immediately after breast development
  3. Menarche - ~2.5 years after the start of puberty (signals that little growth remains, ~5cm)
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11
Q

What pubertal changes occur in both sexes?

A

Development of:

  • Acne
  • Axillary hair
  • Body odour
  • Mood changes
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12
Q

What are some abnormal menstruation findings?

A

Passage of blood clots and using more than 6 pads a day = heavy bleeding and needs investigation.

Normal: 3-7 days of blood loss, 80ml loss, cycle length of 21-45 days.

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13
Q

If puberty is abnormally late or early, what other assessments should be carried out?

A
  • hand and wrist X ray - determines bone age
  • pelvic ultrasound - in females to assess uterine size and endometrial thickness
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14
Q

When does the growth spurt occur in males and females during puberty?

A

Females- after breast development

Males - 18 months after first signs of puberty (so later than in females)

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15
Q

How is height velocity calculated?

A

Two accurate measurements taken at least 6 months apart and measured in cm/year

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16
Q

Define short stature.

A

Height below the second centile (i.e. 2SD below the mean). 1 in 50 of these will be normal due to short parents.

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17
Q

What should the height centile be compared alongside for an accurate measurement of growth?

A
  1. Weight centile
  2. Estimate of genetic expected height - calculated using average of parents’ heights +/- 7cm depending on whether they are male or female respectively.
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18
Q

List 4 broad causes of short staure in a child/

A
  1. Familial - usually normal
  2. Constitutional delay in growth and puberty - variation of normal due to delayed puberty onset
  3. Endocrine
  4. Small for gestational age and extreme pematurity - abnormal if not caught up by 4yrs
  5. Chromosomal disorder/syndromes
  6. Nutritional/long-term illness
  7. Psychosocial deprivation
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19
Q

List 4 chromosonal disorders/syndrome which cause short stature.

A
  1. Down syndrome
  2. Turner - consider in all short females as can be difficult to differentiate
  3. Noonan
  4. Russell-Silver
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20
Q

List 4 endocrine causes of short stature.

A
  1. hypothyroidism
  2. growth hormone deficiency - due to craniopharyngioma, hypothalamic tumour, trauma, meningitis, cranial irradiation
  3. steroid excess - iatrogenic (consider alternate day therapy), Cushing’s syndrome
  4. IGF-1 deficiency

NB: these children are usually overweight and on a higher centile for weight than heigh; note that in normal obese children they would be tall.

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21
Q

Describe 3 endocrine causes of short stature.

A
  1. Hypothyroidism - usually autoimmune thyroiditis which leads to weight hain and short stature after a few years. When treated, catch up growth occurs with rapid puberty. Congenital causes should be diagnosed at birth.
  2. GH deficiency - isolated or secondary to pituitary dysfunction; craniopharyngiomas, hypothalamic tumours, trauma, meningitis and irradiation can contribute to this. Laron syndrome causes reduced GH sensitivity (will have low levels of IGF-1 despite high GH). Abnormalities in gene producing IGF-1 are also possible.
  3. Cushings/corticosteroid excess - usually the latter causing suppression of growth. May be reduced by alternate day therapy. Cushings during puberty can stop growth permanently.
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22
Q

What is Laron syndrome? How is it managed?

A

GH insensitivity syndrome due to defective GH receptors. Treated with recombinnt IGF-1 therapy (very expensive)

*GH is high but low IGF-1 produced at the growth plate and liver

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23
Q

Name 3 chronic conditions which may present with short stature in children?

A
  1. Coeliac - at <2years, may have no GI symptoms to begin with
  2. Crohn’s disease
  3. Chronic kidney disease
  4. Cystic fibrosis - malabsorption, infections, increased work of breathing, low appetite
  5. Congenital heart disease - increased work of breathing
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24
Q

How does the SHOX gene affect height?

A

SHOX = short stature homeobox gene

Located on the X chromosome

  • Absence e.g. in Turner’s causes extreme short stature
  • Additional copies e.g. in Kleinfelter syndrome (XXY) produce taller than normal stature.
  • Polymorphisms may cause idiopathic short stature in some.
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25
Q

How do you confirm disproportionate short stature?

A
  1. Sitting height - spine base to top of head
  2. Subischial leg length - total height minus sitting height
  3. Skeletal XR - left hand and wrist for bone age

Can be caused by skeletal dysplasias e.g. achondroplasia, short-limbed dysplasias, scoliosis, mucopolysaccharidoses (storage disorders).

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26
Q

Name some investigations for short stature.

A
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27
Q

Summarise a short assessment of a child with short stature (including growth chart, history, examination).

A
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28
Q

List 3 causes of tall stature in children.

A
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29
Q

When does most head growth occur? When do the anteroir and posterior fontanelle close?

A
  • 80% head growth occurs within the first 5 years, most in the first 2 years
  • Posterior fontanelle by 8 weeks
  • Anterior fontanelle by 12 - 18 months
30
Q

What is the cause of skull asymmetry in infants?

A

Skull assymetry - due to imbalance of growth rate at the coronal, sagittal or lamboid sutures

31
Q

What is the difference between craniosynostosis and plagiocephaly?

A

Craniosynostosis - premature fusion of one or more sutures which may cause distorsion of head shape e.g. sagittal suture fusion causes a long narrow skull.

Plagiocephaly - asymmetric flattening of one side of the skull from positional moulding.

32
Q

What is occipital plagiocephaly and why is it common?

A

Parallelogram shaped head (asymmetric) from lying on back. Common due to increasing advice for parents to let infants sleep on their back to prevent SIDS. Improves as the infant becomes mobile.

Also common in infants with hypotonia and preterm infants from lying on the hard surface of incubators.

33
Q

Define macrocephaly and microcephaly. Name 2 causes for each including normal variants.

A

Microcephaly - head circumference below the 2nd centile. May be due to : familial, congenital infection, trauma/insult to the developing brain (e.g. hypoxia, hypoglycaemia, meningitis).

Macrocephaly - head circumference above the 98th centile. May be due to: familial, hydrocephalus, tall stature, raised ICP (brain tumour, chronic subdural haematoma, neurofibromatosis) Sotos syndrome, Hurler syndrome.

34
Q

What are the effects of localised craniosynostosis affecting the sagittal, coronal and lamboid sutures?

A

Sagittal - long narrow skull

Coronal - asymmetrical skull

Lamboid - flattening of the skull

35
Q

What are the causes and effects of generalised craniosynostosis?

A

Generalised - usually caused by a syndrome and can result in microcephaly and developmental delay

Causes:

  • Apert syndrome with syndactyly
  • Crouzon syndome with exophthalmos
36
Q

Describe how abnormalities in craniosynostosis can affect head shape.

A
37
Q

What is:

  1. Sotos syndrome ?
  2. Hurler syndrome?
A
  1. Sotos syndrome - cerebral gigantism
  2. Hurler syndrome -central nervous system storage disorder affecting mucopolysaccharidosis
38
Q

What age defines premature sexual development in males and females?

A

The development of secondary sexual characteristics before 8 years of age in females and 9 years of age in males

39
Q

Name 3 patterns of premature sexual development.

A
  1. Precocious puberty
  2. Thelarche - premature breast development
  3. Pubarche or adrenarche - premature pubic hair development
  4. Isolated premature menarche
40
Q

How is precocious puberty categorised?

A
  1. Gonadotrophin dependent - central ‘true’ precocious puberty - premature HPG axis activation causing normal/’consonant’ sequence of pubertal development
  2. Gonadotrophin independent - psuedo/’false’ precicious puberty - excess sex steroids outside pituitary gland causing an abnormal/’dissonant’ sequence of pubertal development
41
Q

Which sex is pecocious puberty more common in and why?

A
  • Females because the ovaries are very sensitive to secretion of gonadotrophins from the pituitary gland so GD PP is relatively common.

(Male testes are relatively insensitive to secretion of gonadotrophins from the pituitary so GD PP is uncommon)

42
Q

What is the LH/FSH level in gonadotrophin dependent and independent precocious puberty?

A

Gonadotrophin dependent - high LH and FSH; LH> FSH

Gonadotrophin independent - low LH and FSH.

43
Q

What is the most common cause of PP in females?

A

Idiopathic or familial i.e. gonadotrophin dependent

44
Q

What are the pathological/secondary causes of precocious puberty in females?

A

Gonadotrophin independent:

  • CAH and adrenal tumours –> excess androgen release

Gonadotrophin dependent:

  • Pituitary adenoma - consonant but rapid pubertal development
45
Q

What are the most likely causes of PP in males in these scenarios?

  1. Bilateral enlargement of testes, testicular volume >4mL
  2. Prepubertal testes
  3. Unilateral enlarged testes
A

Testes insensitive to gonadotrophins so gonadrotrophin-dependent causes are uncommon.

  1. Bilateral enlargement of testes, testicular volume >4mL = gonadotrophin dependent PP e.g. intracranial tumours or beta-human chorionic gonadotrophin release from liver tumour
  2. Prepubertal testes = gonadotrophin independent cause e.g. adrenal tumour or CAH
  3. Unilateral enlarged testes = gonadal tumour
46
Q

List the causes of gonadotrophin dependent precocious puberty.

A

Idiopathic/familial

CNS abnormalities:

  • Congenital anomalies e.g. hydrocephalus
  • Acquired e.g. irradiation, infection, surgery, brain injury
  • Tumours e.g. craniopharyngiom, neurofibromatosis

Hypothyroidism

47
Q

List the causes of gonadotrophin independent precicious puberty.

A

RARE:

Adrenal disorders

  • Tumours
  • CAH

Ovarian tumours e.g. granulosa cell

Testicular tumour e.g. Leydig cell

Exogenous sex steroids

48
Q

What is the goal of management of PP?

A
  1. Detect and treat caue
  2. Prevent premature skeletal maturation
  3. Address psychological/behavioural difficulties
49
Q

How can you delay the onset of menarche in GD and GI PP?

A

GD: Gonadotrophin-releasing hormone analogues (females)

GI: identify source of sex steroids, inhibit with androgen or oestrogen inhibitors e.g. medroxyprogesterone acetate, cyproterone acetate, testolactone, ketoconazole)

50
Q

When is thelarche most commonly seen?

A

Premature breast develpoment usually affects females between 6 months and 2 years of age (can be asymmetrical and fluctuate in size, rarely progresses beyong stage 3 puberty)

51
Q

How is thelarche differentiated from gonadotrophin-dependent PP?

A

Absence of axillary and pubic hair and no significant growh spurt

52
Q

What is the management of thelarche?

A

Non-progressive and self-limiting

No investigations required

53
Q

What is premature pubarche/adrenache? How does it present?

A

AKA premature pubarche, when pubic hair develops before the age of 8 years in a female and 9 years in a male, BUT with no other signs of sexual development. There may be a slight increase in growth rate and bone age (by 12-15 months)

54
Q

When is premature adrenarche most common and why?

A

6-8 years because a normal accentuation in maturation of androgen production occurs then

More common in Asian and Black children

55
Q

What is the management of premature adrenarche?

A

Self-limiting

56
Q

What are the risks of premature adrenarche for females?

A

Increased risk of developing PCOS in later life

57
Q

How can premature adrenarche be differentiated from gonadotrophin independent PP?

A

More agressive course of virilisation suggests gonadotrophin independent PP rather than premature adrenarche. Investigate for levels of androgen in blood, steroids in urine and measure bone age to exclude CAH/adrenal tumour.

58
Q
A
59
Q

This 18-month-old female developed enlargement of both breasts. There was no pubic hair growth, sweatiness, or body odour and her height was in the midparental range. Her bone age was only mildly advanced (21 months). Her subsequent growth rate was normal. What is the diagnosis?

A

Premature thelarche

60
Q

This 6-year-old boy presented with precocious puberty (genitalia stage 3, 12 mL testicles, adult body odour). He was noted to have multiple café-aulait spots. An MRI scan showed a mass in the hypothalamus, which proved to be an optic glioma. What is the diagnosis?

A

Neurofibromatosis type 1 causing gonadotrophin dependent precocious puberty.

Management: radiotherapy, injections of gonadotrophin super-agonists to supress sexual development.

61
Q

Define delayed puberty.

A

Absence of pubertal development by 14 years of age in females and 15 years in males.

62
Q

Is delayed puberty more common in males or females? What is the most common cause of delayed puberty?

A

More common in males due to relative insensitivity of testes to gonadotrophin secretion.

Most commonly caused by constitutional delay in growth and puberty, often with family hitory of delayed puberty.

63
Q

List the causes of delayed puberty.

A
64
Q

A 15-year-old boy is concerned that he is short. He is well, but gets teased at school about his height. His mother had menarche at 13 years of age and his father recalls that he was still growing when he left school at the age of 16 years. Examination reveals stage 1 pubic hair and testicular volumes of 4 mL bilaterally. His bone age is delayed by 18 months. What is the diagnosis and management?

A

Constitional delay in growth and puberty

Management: Treat with testosterone for 8 months to increase growth and confidence. Pubertal progress expected soon after independently to reach a full adult height.

65
Q

What is the management of delayed puberty due to constitional delay in growth and puberty?

A

Reassurance that puberty will occur in males; females need to have organic causes excluded e.g. by karyotyping/sex hormone measurement and thyroid tests.

If treatment is wanted:

Males:

  • Oral oxandrolone (weakly andregenic anabolic steroid can induce catch up growth but not secondary sexual characteristics) for young males
  • Low-dose intramuscular testosterone for older males (accelerates growth and induces secondary sexual characteristics)

Females:

  • Oestradiol for several months to induce puberty
66
Q

What does disproportionate growth with… indicate?

legs>back

back>legs

A

legs> back - skeletal dysplasia

back> legs - storage disorders

67
Q

What is a cause of this type of growth pattern?

A
  1. Nutrition/long term illness
  2. Psychosocial causes - neglect, emotional deprivation

Shows falling off height centiles. Weight centile < height centile. Delayed bone age.

68
Q

What is a cause of this type of growth pattern?

A

Endocrine e.g. GH deficiency, steroid excess, hypothyroidism, IGF-1 deficiency.

Falling off height centiles. Weight centile >height centile. i.e. short and overweight. Markedly delayed bone age.

69
Q

What is a cause of this type of growth pattern?

A

Constitutional delay of growth and puberty

Short stature accentuated by delayed puberty. Delayed bone age.

70
Q

What are the causes of this type of growth pattern?

A
  1. Familial - following growth centile within predicted range for parental height
  2. Severe intrauterine growth restriction - short from birth (but normal midparental height)

Year 5 - Paediatrics (91 decks)

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