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Paed:Endo Flashcards

1
Q

Why measure children?

A

Provides a sensitive indication of health in childhood
Growth rates are narrowky defined in children w/ adequate nutrition and an emotionally supportive environment
Changes in growth rate can provide an early pointer to problems

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2
Q

Important determinants of growth?

A

Nutrition, parents, parental phenotype and genotype, quality and duration of pregnancy, psychosocial environment, Growth promoting hormones and factors

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3
Q

Puberty features in females?

A

Breast development - first sign, 8.5-12.yrs
Pubic hair growth and rapid height spurt
Menarche - occurs on average 2.5yrs after start of puberty and signals end

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4
Q

Puberty features in males?

A

Testicular enlargement to over 4ml volume
Pubic hair growth follows
Height spurt - when testicular volume is 12-15ml

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5
Q

How do you measure testicular volume?

A

Orchidometer

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6
Q

Changes in both sexes?

A

Acne
Axillary hair
Body odour
Mood changes

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7
Q

Methods of assessing puberty?

A

Bone age measurement of wrist

Females: pelvic uss for uterine size/endometrial thickness

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8
Q

What is meant by Short Stature?

A

Height below the 2nd centile (2.5SD below the mean) or 0.4th centile

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9
Q

Causes of short stature?

A 
Familial
IUGR
Extreme prematurity
Constitutional delay
Endocrine (hypothyroidism, GH defiecinecy, corticosteroid excess, cushings)
Nutritional/chronic illness
Psycosociald deprivation
Chromosomal disorders
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10
Q

investigations of short stature?

A

Measure sitting height and sub-ischial leg length.

GH, IGF-1, TSH, X-ray of wrist, cortisol and dexa suppression test

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11
Q

Treatment of short stature?

A

Daily GH injection and recombinant IGF-1 therapy

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12
Q

Causes of tall stature?

A

Primary:Familial, Obesity
Secondary: Hyperthyroidism, excess sex steroid, CAH, gigantism (increased GH), marfans

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13
Q

Syndromes that cause tall stature?

A

Marfans

Klinefelters

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14
Q

What is premature sexual development?

A

The development of secondary sexual characteristics before 8 years old in girls and 9 years old in boys.

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15
Q

What may premature sexual development be due to?

A

Precococious puberty
Premature breast development (thelarche)
Premature pubic hair development (pubarche/adrenarche)

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16
Q

What is precocious puberty?

A

True PP: Gonadotropin-dependent from premature activation of the hypothalamic-pituitary-gonadal axis
False PP: Gonadotropin-independent from excess sex steroids

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17
Q

Precocious puberty in females:

A

Usually idiopathic or familial.

USS of ovaries and uterus useful, often find multicystic ovaries and enlarging uterus

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18
Q

Precocious puberty in males:

A

Normally an organic cause, especially intercranial tumours. Tumours in hypothalalamic region investigated by MRI.
Exam of testes:
- bilateral enlargement suggests gonadotropin release usually from intercranial lesion
- small testes suggests an adrenal cause
- unilateral enlargement suggests gonadal tumour

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19
Q

How is premature thelarche differentiated from PP?

A

By absence of axillary and pubic hair and no growth spurt

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20
Q

What is premature pubarche?

A

Pubic hair develops before 8 in females and before 9 in males with no other signs of sexual development.
Caused by accelearation of androgen production of adrenal gland.

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21
Q

Investigations for prem pubarche?

A

USS of ovaries and uterus
Bone age - to exclude central prec pub
urinary steroid profile - differentiate from late CAH

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22
Q

What is delayed puberty?

A

The absence of pubertal development by 14 years old in females and 15 years old in males.

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23
Q

Causes of delayed puberty?

A

Constitutional delay/familial
Low gonadotropin secretion (hypogonadotropic hypogonadism) –> CF, asthma, crohns,kallman syndrome,
High gonadotropin secretion (hypergonadotropic hypogonadism) –> Klinefelters 47XXY, Turners 45X0

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24
Q

Treatment of delayed puberty?

A

Males: Oral Oxandrolone or low dose IM Testosterone
Females: Oestradiol

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25
What is the defiency in CAH?
90% have a defiency in 21-hydroxylase enzyme, needed for cortisol biosynthesis. About 80% also unable to produce Aldosterone, leading to salt loss (Increased potassium, low sodium)
26
What happens in utero in CAH?
In the fetus, cortisol defiency stimulates the pituitary to produce excess ACTH which drives overproduction of adrenal androgens.
27
Clinical presentation of CAH?
Virilisation of external genitalia in female infants, with clitoral hypertrophy and variable fusion of the labia In the infant male, penis may be enlarged and scrotum distended Salt losing adrenal crisis -> vomiting, w loss, floppiness, circulatory collapse Tall stature in the non saltlosing
28
Diagnosis of CAH
Raised 17-alphahydroxyprogesterone in blood | In salt loss: Hyponatraemic, hyperkalaemic, hypoglycaemic, metabolic acidosis. ( Low na, high K, low glucose, acidotic)
29
Management of CAH
Females: Corrective surgery to decrease clitaromegaly and vaginoplasty Males: Salt losing -> saline, dextrose, hydrocortisone IV Long term: Lifelong glucocorticoids to decrease ACTH (and hence testosterone), mineralcorticoids (fludrocortisone) if salt loss. additional hormones if injury,
30
If diagnoised prenatally, CAH can be treated with?
Dexamethasone. (youd only check if parents have already had a CAH kid)
31
What does fetal thyroid produce?
Reverse T3 - inactive
32
what are causes of congenital hypothyroidism?
Maldescent of the thyroid and athyrosis Dyshormogenesis - inborn error of thyroid hormone synthesis Iodine deficiency TSH deficiency - usually de to panhypopituitarism
33
What are the features of congenital hypothyroidism?
Usually asymp, picked up on screening. FtT, feeding problems, prolonged jaundice, constipation, pale/cold mottled dry skin, coarse faeces, large tongue, hoarse cry, goitre, umbilical hernia, delayed development.
34
What are the features of acquired hypothyroidism?
Cold intolerance, dry skin, cold peripheries, bradycardia, thin/dry hair, goitre, slow relaxing reflexes, constipation
35
How is most hypothroidism detected?
Guthrie test - routine biochemical screenng. Identifies raised TSH
36
Why arent thyroid dysfunction secodnary to pituitary abnormalities found on gutrhrie?
Because TSH will be low.
37
Treatment of hypothyroidism?
Thyroxine
38
Why must hypothyroidism be treated?
Prevent learning difficulties
39
What is the normal cause of juvenile hypothyroidism?
Autoimmune thyroiditis
40
What normally causes hyperthyroidism?
Graves disease (autoimmune thyroiditis), secondary to production of thyroid stimulating immunoglobulins
41
Clinical features of hyperthyroidism?
Systemic: Anxiety, resltessness, icnreased appetite, sweating, diarrhoea, w loss, rapid growth in height, advanced bone maturity, tremor, tachycardia, warm peripheries, goitre, learning difficulties, psychosis
42
Eye signs in hyperthryoidism?
Exopthalmos, opthalmoplegia, lid retraction, lid lag (These are all uncommon in children)
43
What is the lab picture in hyperthyrodism?
T4 and T3 raised and TSH low. Thyroid stimulating antibodies. May also be anti-TPO-->HAshimotos Thyroiditis
44
What is the treatment of hyperthyroidism?
1st line: carbimazole or propylthiouracil - can add beta blockers for Sx relief of tremor, anxiety + tachycardia 2nd line: surgery (subtotal thyroidectomy + radioiodine treatment)#- may need thyroxine after
45
What is the risk with anti-thyroid medication?
Neutropenia: fever, sore throat
46
Neonatal hyperthyrodisim may occur why?
Infants of mothers w/ graves recive TSI's from transplacental transfer of abs.
47
Clinical presentation fo Testicular Torsion?
Sudden onset severe pain in groin/ lower abdomen vomiting tender testicle late sign: redness and swelling
48
Investigation of testicular torsion?
surgical exploration Doppler USS to diff/ from epidydmis must resolve in 6-12h to save testicle
49
What puts you at increased risk of testicular torsion?
Undescended testes | Bell-Clapper deformity
50
What is Torsion of Testicular appendage?
Torsion of the hyatid of morgani on the upper pole of testis. Pain. Blue dot sign
51
What is undescended testes?
An undescended testes has been arrested along its normal pathway of descent
52
Who is undescended testes most common in?
Most common in preterm as descent occurs in third trimester.
53
Classification of undescended testes?
Retractile - can be manipulated down into base of scrotum but moves back up by cremasteric muscle palpable - can be palpated in groin but not manipulated into scrotum inpalpable - no testes felt. may be absent, in abdo, or in inguinal canal.
54
Investigations of undescended testes?
USS HcG Laparoscopy
55
Management of undescended testes?
Surgical replacement of testis in scortum (orchidopexy) | saves fertility
56
What are the types of paediatric diabetes?
Type 1 - destruction fo pancreatic beta cells by an autoimmune process. No insulin produced. Type 2 - insulin resistance followed later by beta cell failure. Type 3 - Genetic defects in beta cell function due to glucokinase or transcription factor mutations Type 4 - Gestational diabetes
57
Signs and symptoms of paediatric diabetes?
Classic triad: Polydipsia, polyuria, weight loss | Less common: Enuresis, skin sepsis, candida
58
Symptoms of DKA?
``` Acetone breath Vomiting Dehydration Abdo pain Hyperventilasion (Kussmauls breathing) Hypovolaemic shock Drowsiness Coma and DEATH! ```
59
Diagnosis of diabetes?
Raised random blood glucose >11.1mmol/L Fasting blood glucose >7mmol/L Raised Hba1c > 6.5% Glycosuria and ketonuria
60
Management of diabetes?
Insulin Diet blood glucose monitoring
61
Management of DKA?
``` Fluids first Insulin Potassium (glucose pushes potassium into cells...replace it) Acidosis Start oral fluids ```
62
Symptoms of hypoglycaemia?
Autonomic: Palpitations, irritable, pallor Neuroglycopenic: LoC, dizzy, confused, poor concentration
63
What is Kallmans syndrome?
A genetic disroder characterised by association of hypogonatrohic hypogonadism and anosmia. Due to failure of migration of GnRH neurones. Clinical features: synkinesia (mirror image movements), renal agenesis, visual problems, craniofacial anomalies
64
Congenital causes of Hypogonadotrophic Hypogonadism?
``` kallmans syndrome congenital hypopituarism isolated LH deficiency/isolated FSH deficiency Congenital adrenal hypoplasia Prader-Willi syndrome ```
65
Acquired causes of Hypogonadotrophic Hypogonadism?
``` Intercranial tumours Cranial irradiation traumatic brain injury langerhans cell histiocytosis anorexia nervosa excess physical training IBD ```
66
What could a disroder of sexual differentiation be secondary to?
- Excessive androgens eg. CAH - Inadequate androgen action - Gonadotropin insuffiency - Ovotesticular disorder of sex development

3a (25 decks)

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