13 - Puberty Flashcards

1
Q

What is puberty and at what age does this happen?

A

Stage where secondary sexual characteristics develop in a child so they have the ability to reproduce

Girls: 8-14, on average starting at 10.5

Boys: 9-15, on average starting at 11.5

Takes 4 years to complete on average

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2
Q

What signals the end of puberty?

A

Closure of epiphyseal growth plates

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3
Q

What are the stages of female puberty?

A
  1. Therlarche: breast bud growth
  2. Adrenarche: hair growth
  3. Menarche: usually coincides with Tanner stage 3, average age 12.9
  4. Growth: 5-10cm/year after menarche
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4
Q

What are the different Tanner stages for girls?

A

BREAST AND PUBIC HAIR (know both)

  • B1 Prepubertal
  • B2 Breast bud
  • B3 Elevate breast
  • B4 Areola and papilla project above breast
  • B5 Adult
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5
Q

What are the stages of puberty in boys?

A
  1. Growth of testes
  2. Pubic hair growth and change in voice
  3. Growth between age 14-17
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6
Q

What are the different Tanner stages for male puberty?

A

Male genital changes

  • G1 Prepubertal, testicular volume <1.5ml
  • G2 Penis grows in length only, testicular volume 1.5-6ml
  • G3 Penis grows further in length and circumference, testicular volume 6-12ml
  • G4 Development of glans penis, darkening of scrotal skin, testicular volume 12-20ml
  • G5 Adult genitalia, testicular volume >20ml

Pubic hair changes

  • PH1 Pre-adolescent no sexual hair
  • PH2 Sparse, pigmented, long, straight, mainly along base of penis
  • PH3 Dark, coarser, curlier
  • PH4 Filling out towards adult distribution
  • PH5 Adult in quantity and type with spread to medial thighs in males
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7
Q

What are some common complications that occur during puberty?

A

Acne: due to increased sebaceous gland activity

Gynaecomastia: just reassure will eventually resolve

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8
Q

What is precocious puberty and what are the complications of this?

A

Puberty before the 8 of age in girls and 9 in boys

  • Short stature
  • Psychological disturbance
  • Safeguarding concerns
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9
Q

What hormones drive pubic hair growth, breast enlargement, penis enlargement and testicular enlargement?

A

Pubic Hair: adrenal androgens (DHEA, DHEAS)

Breast enlargement/Penis enalrgement: sex steroids (oestrogen and testosterone)

Testicular enlargement: pituitary gonadotrophin (LH, FSH)

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10
Q

What are the causes of precocious puberty?

A

Think of causes as central or peripheral

Gonadotrophin-dependent precocious puberty (GDPP) (true)

  • Idiopathic (>90%)
  • Brain tumours
  • Cranial radiotherapy
  • Cranial disability e.g hydrocephalus, cerebral palsy, meningitis
  • Traumatic head injury
  • Associated with child adoption and sexual abuse

Gonadotrophin independent precocious puberty (GIPP) (false)

  • Ovarian and Testicular tumours
  • Congenital Adrenal Hyperplasia
  • McCune-Albright syndrome (MAS)
  • Hypothyroidism
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11
Q

What is primary amenorrhea?

A

Absence of menstruation by the age of 16 OR

Absence of breasts by the age of 14

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12
Q

Who is precocious puberty pathological in?

(image is important)

A

BOYS

Girls it is often familial

Pathological if discordance between Tanner stages e.g full pubic hair but little testes volume

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13
Q

What is the main difference between gonatrophin dependent and independent precocious puberty?

A

Independent is usually just one sexual characteristic but dependent is full puberty

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14
Q

What investigations need to be done for a child undergoing precocious puberty?

A
  • Growth charts and Tanner charts
  • Brain CT/ MRI
  • Bone age (skeletal X-ray)
  • Karyotype
  • TFTs
  • LH, FSH, GH
  • AFP and HCG
  • Oestrogen and Testosterone level
  • Gonad US
  • Virilizing 21-hydroxylase deficiency: 17hydroxyprogesterone on ACTH stimulation
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15
Q

How is precocious puberty managed?

A

GDPP: GnRH analogues e.g goserelin so continuous high levels rather than pulses to stop pituitary responding with FSH/LH.

Treat any brain tumours

GIPP: treat underlying condition e.g remove ovarian tumour, hydrocortisone for CAH

Reassure parents that their child will develop normally

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16
Q

What does precocious puberty look like in CAH?

A
  • Pubic and axillary hair
  • Cliteromegaly
  • NO breast development
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17
Q

What is the definition of late-onset puberty?

A
  • No signs of puberty by age 13 in girls and 14 in boys
  • No menstruation by the age of 16 in girls
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18
Q

What are some of the causes of delayed puberty in both boys and girls?

A

Most common cause is constitutional delay

Hypogonadotropic Hypogonadism (deficiency of LH and FSH so leads to deficiency of testosterone and oestrogen)

  • Damage to the hypothalamus or pituitary, e.g radiotherapy or surgery
  • Growth hormone deficiency
  • Hypothyroidism
  • Hyperprolactinaemia
  • Serious chronic conditions e.g CF and IBD
  • Constitutional delay in growth and development
  • Kallman syndrome

Hypergonadotropic Hypogonadism (gonads fails to respond to LH/FSH)

  • Damage to gonads (e.g. testicular torsion, cancer, mumps)
  • Congenital absence of the testes or ovaries
  • Kleinfelter’s Syndrome (XXY)
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19
Q

What are some causes of delayed puberty in just girls?

A
  • Turner’s Syndrome
  • Anorexia Nervosa
  • Low body weight/athletic lifestyle
  • Autoimmune failure- premature ovarian failure
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20
Q

What investigations should be for delayed puberty?

A

Initial investigations can be used to look for underlying medical conditions:

  • FBC and ferritin for anaemia
  • U&E for chronic kidney disease
  • Anti-TTG or anti-EMA antibodies for coeliac disease

Hormonal Blood tests:

  • Early morning serum FSH and LH (the gonadotropins)
  • TFTs
  • Insulin-like growth factor I: screening test for GH deficiency.
  • Serum prolactin

Karyotyping (XXY and XO)

Imaging

  • Xray wrist to assess bone age and diagnose constitutional delay
  • Pelvic US in girls to assess the ovaries and other pelvic organs
  • MRI of the brain to look for pituitary pathology and assess olfactory bulbs
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21
Q

How is delayed puberty managed?

A
  • Observation and reassurance for constitutional delay and that they will reach normal height
  • Sex hormone replacement
  • Treat underlying abnormality e.g treat CF optimally, weight gain, GH for Turner’s
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22
Q

What is Kallman’s syndrome?

A
  • Genetic condition with hypogonadotrophic hypogonadism
  • Anosmia
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23
Q

What is short stature and some causes of this?

A

Height below 2.5th centile

ANY CHRONIC DISEASE

  • Familial
  • Constitutional delay in growth and puberty
  • Psychological neglect
  • Hypothyroidism
  • Cushing’s
  • Turner’s
  • Noonan
  • Down’s
  • Chronic inflammatory diseases e.g IBD, Coeliacs, Asthma
  • Heart failure
  • Achondroplasia (AD dwarfism) and Hypochondroplasia
  • Malnutrition
24
Q

What investigations can be done for short stature?

A
  • Growth chart with mid-parental height for familial
  • TFTs
  • GH tests
  • Karyotyping if dysmorphic features
25
Q

How is short stature due to GH deficiency treated?

A

Child will appear obese and short

Give s/c synthetic GH as soon as possible (Somatotrophin)

26
Q

What are some causes of tall stature?

A
  • Marfan’s
  • Precocious puberty
  • Klinefelter’s
  • Familial
  • Obesity
  • Thyrotoxicosis
  • Homocystinuria
27
Q

What is congenital adrenal hyperplasia?

A

Autosomal Recessive

Congenital deficiency of the 21-hydroxylase enzyme

This causes underproduction of cortisol and aldosterone and overproduction of androgens from birth. This is because low cortisol leads to raised ACTH which then causes raised androgens

28
Q

What is the usually pathway for the conversion of progesterone in the adrenal glands into other substances?

A
  • Catalysed by 21-hydroxylase to Aldosterone and Cortisol
  • If no enzyme converted to testosterone
29
Q

Severe CAH usually presents at birth. What is this presentation?

A

Due to hyponatraemia, hyperkalaemia and hypoglycaemia:

  • Poor feeding
  • Vomiting
  • Dehydration
  • Arrhythmias

Females: virilisation and ambiguous genitalia at birth

30
Q

Severe CAH may present a few weeks after birth as at birth they still have aldosterone from the placenta. How may this present a few weeks later and how do we treat the baby?

A

Presentation (due to salt wasting from lack of Aldosterone)

  • *•** Nausea/vomiting
  • *•** Abdominal pain
  • *•** Lethargy
  • *•** Hypotension

Treatment:

  • IV saline to replace fluid and saline
  • Hydrocortisone which exerts both a glucocorticoid and mineralocorticoid effect
  • Lifelong treatment with replacement of the deficient hormones
31
Q

Some milder cases of CAH might not present with salt wasting crisis and may present at a later date. How do they present?

A

Due to high androgen

Female patients:

  • Tall for their age
  • Facial hair
  • Absent periods
  • Deep voice
  • Early puberty

Male patients:

  • Tall for their age
  • Deep voice
  • Large penis
  • Small testicles
  • Early puberty
32
Q

How is CAH investigated and managed?

(Image is important)

A

Investigations

Early morning Serum 17-hydroxyprogesterone

Rapid ACTH Stimulation test

Serum cortisol

Management

  • Glucocorticoid replacement in all (hydrocortisone)
  • Mineralcorticoid replacement in salt-wasting cases (fludrocortisone)
  • Genitoplasty if needed
  • If short stature give GH somatotropin
33
Q

What is androgen insensitivity syndrome?

A
  • X-Linked recessive
  • XY but unable to respond to androgens due to no receptors so testosterone converted to oestrogen so female sex characteristics
  • Patients have testes in the abdomen or inguinal canal, and absence of a uterus,upper vagina, cervix,fallopian tubesandovariesdue to production ofanti-mullerian hormone by the testes
34
Q

What are some signs of androgen insensitivity syndrome?

A
  • Clitoromegaly
  • Micropenis
  • Bifid scrotum
  • Lack of pubic hair due to inability to respond to androgens
  • Inguinal hernias
  • Primary amenorrhea
35
Q

What is the hormone profile of somebody with Androgen Insensitivity Syndrome?

A
  • Raised LH
  • Normal or raised FSH
  • Normal or raised testosterone levels (for a male)
  • Raised oestrogen levels (for a male)
36
Q

How is androgen insensitivity syndrome managed?

A

MDT with paediatrics, gynaecology, urology, endocrinology and clinical psychology

  • Bilateral orchidectomy to avoid testicular tumours
  • Oestrogen therapy
  • Vaginal dilators or vaginal surgery to create an adequate vaginal length
  • Psychological input
37
Q

What is adrenal insufficiency and the different causes of this?

A

When the adrenal glands do not produce enough steroid hormones, especially cortisol and aldosterone

  • Primary Adrenal Insufficiency: Addison’s Disease which is autoimmune, also Congenital Adrenal Hyperplasia causes insufficiency
  • Secondary Adrenal Insufficiency: Inadequate ACTH due to congenital underdevelopment (hypoplasia) of the pituitary gland, surgery, infection, loss of blood flow or radiotherapy
  • Tertiary Adrenal Insufficiency: Inadequate CRH from hypothalamus, usually due to long-term steroids >3 weeks. Need to be tapered off steroids slowly as takes a while for hypothalamus to ‘switch back on’
38
Q

How may adrenal insufficiency present in older children?

A
  • Nausea and vomiting
  • Poor weight gain or weight loss
  • Reduced appetite
  • Abdominal pain
  • Muscle weakness or cramps
  • Developmental delay or poor academic performance
  • Bronze hyperpigmentation to skin in Addison’s caused by high ACTH levels. ACTH stimulates melanocytes
39
Q

What investigations should you do if you suspect adrenal insufficiency?

A
  • U&Es (hyponatraemia and hyperkalaemia)
  • Blood glucose (hypoglycaemia)

Test for the diagnosis: cortisol, ACTH, aldosterone and renin levels, prior to administering steroids if possible

40
Q

What is the confirmatory test for adrenal insufficiency and what do the results show?

A

Short synacthen stimulation test (ACTH)

  • Done in the morning
  • Synacthen (synthetic ACTH) given and then serum cortisol is measured at baseline, 30 and 60 minutes after administration
  • Cortisol level should at least double in response to synacthen
  • If cortisol does not rise (less than double the baseline) this indicates primary adrenal insufficiency(Addison’s disease)
41
Q

What is the hormone profile with primary adrenal insufficiency (Addison’s) and secondary adrenal insufficency?

A

Addisons Disease (Primary Adrenal Failure)

  • Low cortisol
  • High ACTH
  • Low aldosterone
  • High renin

Secondary Adrenal Insufficiency

  • Low cortisol
  • Low ACTH
  • Normal aldosterone
  • Normal renin
42
Q

How is adrenal insufficiency managed?

A
  • Replacement steroids titrated to signs, symptoms and electrolytes: Hydrocortisone to replace cortisol, Fludrocortisone to replace aldosterone
  • Steroid card and emergency ID tag: to inform emergency services they are dependent on steroids for life
  • Doses increased during an acute illness to match the normal steroid response to illness
43
Q

What are sick day rules with adrenal insufficiency?

A

Any temperature over 38ºC or vomiting and diarrhoea

  • Increase dose and regularity of steroids until better
  • Monitor blood sugars closely due to risk of hypoglycaemia and eat regular carbohydrates
  • If diarrhoea or vomiting need IM injection of steroid or admission for IV steroids
44
Q

What is an adrenal crisis and how does it present?

A

Absence of steroid hormones result in a life threatening presentation

  • Reduced consciousness
  • Hypotension
  • Hypoglycaemia, hyponatraemia and hyperkalaemia

Often triggered by infection, trauma or other acute illness in AI

45
Q

How is adrenal crisis managed?

A

DO NOT WASTE TIME ON INVESTIGATIONS - TREAT FIRST

  • Intensive monitoring if they are acutely unwell
  • IV steroids (e.g hydrocortisone)
  • IV fluid resuscitation
  • Correct hypoglycaemia
  • Careful monitoring of electrolytes and fluid balance
46
Q

What genetic condition in children can lead to adrenal insufficiency?

A

Congenital Adrenal Hyperplasia

47
Q

What is the purpose of growth hormone?

A

Produced by anterior pituitary and stimulates release of insulin like growth factor 1 (IGF-1)

Stimulating cell reproduction and the growth of organs, muscles, bones and height

48
Q

What are some causes of growth hormone deficiency?

A

Congenital** **growth hormone deficiency: genetic mutation such as the GH1 or GHRHR (growth hormone releasing hormone receptor) genes, or due to empty sella syndrome where the pituitary gland is under-developed or damaged

Acquired growth hormone deficiency: secondary to infection, trauma or interventions such as surgery

49
Q

How does growth hormone deficiency present at birth and in older children?

A

Neonate

  • Micropenis (in males)
  • Hypoglycaemia
  • Severe jaundice

Older Children

  • Poor growth, usually stopping or severely slowing from age 2-3
  • Short stature
  • Slow development of movement and strength
  • Delayed puberty
50
Q

What investigations are done for a growth hormone deficiency diagnosis?

A
  • IGF-1
  • Growth hormone stimulation test
  • TFTs and Adrenal hormones: look for other hormone deficiency
  • MRI brain: look for structural issues with pituitary and hypothalamus
  • Wrist X-Ray: assess bone age
  • Genetic Testing: Prader-Willi and Turner’s
51
Q

What is the growth hormone stimulation test?

A
  • Measuring the response to medications that normally stimulate the release of growth hormone e.g glucagon, insulin, arginine and clonidine
  • Growth hormone levels are monitored regularly for 2-4 hours after administering the medication. In growth hormone deficiency there will be a poor response to stimulation
52
Q

How is growth hormone deficiency treated in children and what are the complications if this is not treated?

A

Monitoring by paediatric endocrinologist for growth and other hormone deficiencies:

  • Daily subcutaneous injections of growth hormone (somatropin)
  • Treatment of other associated hormone deficiencies
  • Close monitoring of height and development
53
Q

What is a side effect of prostin?

A

Apnea so monitor neonates breathing

54
Q

What is the target centile for children’s height?

A

Mid Parental Height +/- 2SDs

55
Q

If a child is premature and short how can this be treated in childhood?

A

GH if not caught up growth by 4 years (below 3rd centile)

56
Q

How much fluid does a neonate need in feeding?

A

150mls/kg/day

57
Q

What weight do you use in neonates?

A

Birth weight until weight exceeds!!!