Y4 Paediatrics > 13 - Puberty > Flashcards

13 - Puberty Flashcards

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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?

Study These Flashcards
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?

Study These Flashcards
A
  • Growth chart with mid-parental height for familial
  • TFTs
  • GH tests
  • Karyotyping if dysmorphic features
25
How is short stature due to GH deficiency treated?
Child will appear obese and short Give **s/c synthetic GH** as soon as possible **(Somatotrophin)**
26
What are some causes of tall stature?
* Marfan's * Precocious puberty * Klinefelter’s * Familial * Obesity * Thyrotoxicosis * Homocystinuria
27
What is congenital adrenal hyperplasia?
**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
What is the usually pathway for the conversion of progesterone in the adrenal glands into other substances?
* Catalysed by 21-hydroxylase to Aldosterone and Cortisol * If no enzyme converted to testosterone
29
Severe CAH usually presents at birth. What is this presentation?
Due to **hyponatraemia, hyperkalaemia and hypoglycaemia:** * Poor feeding * Vomiting * Dehydration * Arrhythmias **Females:** virilisation and ambiguous genitalia at birth
30
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?
**_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
Some milder cases of CAH might not present with salt wasting crisis and may present at a later date. How do they present?
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
How is CAH investigated and managed? | (Image is important)
**_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
What is androgen insensitivity syndrome?
* **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 tubes****and****ovaries**due to production of**anti-mullerian hormone** by the testes
34
What are some signs of androgen insensitivity syndrome?
* Clitoromegaly * Micropenis * Bifid scrotum * Lack of pubic hair due to inability to respond to androgens * Inguinal hernias * Primary amenorrhea
35
What is the hormone profile of somebody with Androgen Insensitivity Syndrome?
* Raised LH * Normal or raised FSH * Normal or raised testosterone levels (for a male) * Raised oestrogen levels (for a male)
36
How is androgen insensitivity syndrome managed?
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
What is adrenal insufficiency and the different causes of this?
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
How may adrenal insufficiency present in older children?
* 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
What investigations should you do if you suspect adrenal insufficiency?
* ***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
What is the confirmatory test for adrenal insufficiency and what do the results show?
**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
What is the hormone profile with primary adrenal insufficiency (Addison's) and secondary adrenal insufficency?
**_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
How is adrenal insufficiency managed?
* **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
What are sick day rules with adrenal insufficiency?
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
What is an adrenal crisis and how does it present?
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
How is adrenal crisis managed?
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
What genetic condition in children can lead to adrenal insufficiency?
Congenital Adrenal Hyperplasia
47
What is the purpose of growth hormone?
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
What are some causes of growth hormone deficiency?
**_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
How does growth hormone deficiency present at birth and in older children?
**_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
What investigations are done for a growth hormone deficiency diagnosis?
* **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
What is the growth hormone stimulation test?
* 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
How is growth hormone deficiency treated in children and what are the complications if this is not treated?
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
What is a side effect of prostin?
Apnea so monitor neonates breathing
54
What is the target centile for children's height?
Mid Parental Height +/- 2SDs
55
If a child is premature and short how can this be treated in childhood?
GH if not caught up growth by 4 years (below 3rd centile)
56
How much fluid does a neonate need in feeding?
150mls/kg/day
57
What weight do you use in neonates?
Birth weight until weight exceeds!!!
Y4 Paediatrics
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