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AKP > Endocrinology and growth > Flashcards

Endocrinology and growth Flashcards

1
Q

Define septo-optic dysplasia and what conditions it is associated with.

A

Developmental abnormalities of midline structures of brain, optic nerve hypoplasia and hypopituitarism.
A/W Congenital D.I. Hypothyroidism

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2
Q

Define holoprosencephaly

A

forebrain of embryo fails to develop into two distinct features. May be mild or severe. a/w midline craniofacial abnormalities

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3
Q

How might congenital pituitary disorders present in the neonate?

A

Dysmorphic features including subtle craniofacial abnormalities
Roving eye movements and nystagmus due to optic nerve hypoplasia
Micropenis and maldescended testes (boys)—suggesting gonadotrophin deficiency
Hypogylcaemia

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4
Q

What hormone is produced in the posterior pituitary lobe?

A

Anti-diuretic hormone

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5
Q

What hormones are produced in the anterior pituitary lobe?

A

Prolactin
FSH, LH
Thyroid stimulating horomone, Growth Hormone
Adrenocorticotrophic hormone (ACTH)

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6
Q

What congenital condition is characterised by significant hypothalamic-pitutiary issues, featuring short growth and obesity from 2 years of age

A

Prader-Willi Syndrome

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7
Q

What are the side effects of growth hormone replacement therapy?

A

Headache, idiopathic intracranial hypertension, lipohypertrophy

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8
Q

What are the side effects of cortisol replacement therapy?

A

Cushings syndrome features

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9
Q

What are the side effects of thyroid hormone replacement therapy?

A

Sleep and behaviour problems, headache, idiopathic intracranial hypertension

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10
Q

What are the causes of excess production of anterior pituitary hormones?

A

Cerebral palsy and metabolic disorders
Low dose cranial irradiation
Optic nerve or hypothalamic gliomas—seen in children with NF1.
Hypothalamic hamartomas

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11
Q

What are the features of a Prolactinoma?

A

Older child with: galactorrhoea, headache due to raised intracranial pressure, visual problem, pubertal delay

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12
Q

Define Cranial Diabetes insipidus

A

Insufficient ADH

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13
Q

What are the congenital causes of Cranial Diabetes insipidus?

A

Septo-optic dysplasia, holoprosencephaly

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14
Q

Define Renal Diabetes Insipidus

A

Renal Resistance to ADH

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15
Q

What are the causes of Renal Diabetes Insipidus

A

Commonest is X-linked condition a/w polydipsia, polyuria and hypernatraemia

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16
Q

What are the Aquired causes of Cranial Diabetes Insipidus ?

A

Anything that can damage pituitary
germinioma, histocytosis, neuro surgery, trauma infection

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17
Q

What are the normal values for fasting serum and urine osmolality?

A

Serum osmolality of 275–295 mOsmol/kg
Urine osmolality > 850 mOsmol/kg

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18
Q

What are the values of fasting serum and urine osmolality in Diabetes insipidus?

A

Inappropriately diluted urine.
i.e. Serum osmolality >290mOsmol/Kg but urine osmolaity < 750 mosmol/kg

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19
Q

What does a water depirvation test involve?

A

Depriving the child of water for seven hours, with plasma sodium and osmolality measured every two hours.

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20
Q

What are the symptoms of diabetes insipidus?

A

Polydipsia, polyuria, if doesn’t drink quickly develops hypernatraemic dehydration.

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21
Q

What is the treatment for diabetes insipidus; cranial and nephrogenic?

A

Cranial- desmopression, give cautiously!
Nephrogenic - Thiazuide diuretic to inc salt excretion in urine

22
Q

Describe SIADH

A

Inappropriate ADH secretion causing inappropriate retention of sodium and of fluid. Therefore hyponatraemia and hypervolaemia

23
Q

What are the symptoms of SIADH?

A

May be mild, (restless, fatigue weakness) if NA+ >125
If <125 headache, vomiting reduced level of consciousness,
seizures and death

24
Q

What are the medical causes of SIADH?

A

RESP and CNS infections, trauma, pain, raised ICP

25
Q

What drugs can cause SIADH?

A

Carbamezapine, cyclophosphomide, sodium valproate

26
Q

What is the treatment for SIADH?

A

Treat underlying condition
inc sodium by no more than 8mmol/l in 24h

27
Q

What somolarity is diagnositic of SIADH

A

Low serum sodium, dilute serum < 275mOsmol
Urinary sodium >10mOsmol/kg. Concentrated urine.

28
Q

What physiological sign is pathagnomic for primary adrenal insufficiency?

A

Increased generalised pigmentation of the skin, especially parts of the body which are not exposed to the sun

29
Q
A

2-3 weeks of life. Poor weight gain, vomiting , increased pigmentisation, virilised females

30
Q

What enzyme deficiency commonly causes CAH?

A
31
Q

What are the laboratory features of an adrenal crisis?

A
32
Q

What is the test for CAH?

A

17alpha-hydroxyprogesterone levels
+/- karyotyping if ambiguous genitalia

33
Q

What is addison’s disease and how does it present?

A

Autoimmune destruction of adrenal cortex
Adrenal insufficiency + increased pigmentation

34
Q

What is the test for Addison’s diease?

A

Short Synacthen test. Low cortisol despite ACTH stimulation.

35
Q
A

Hydrocrotisone IV, Fluid resucitation with 0.9% saline and 10 % dextrose

36
Q

How is adrenal insufficiency treated?

A

Oral hydrocortisone and fludrocortisone
increase doses when sick.

37
Q

What are the inital investigation done to confirm hypercortisolism?

A

24 hour urinary free cortisol excretion- pos if high
serum cortisol circadian rhythm study (0900 h, 1800 h and midnight when asleep) - pos no change with circadian rythm
overnight dexamethasone suppression test with 1 mg dexamethasone- pos if not suppressed.

38
Q

What are the causes of Cushings disease?

A

ACTH secreting pituitary tumour
Cortisol secreting adrenal tumour

39
Q

Lump in neck, high T4, normal TSH and no TSH receptor antibodies suggests what?

A

Non-toxic goitre

40
Q

What is the first stage of puberty in boys?

A

increasing testicular volume

41
Q

What is the first stage of puberty in girls?

A

Breast budding

42
Q

What are the two types of precocious puberty? How tell difference?

A

Central i.e. gonadotrophin dependent
Gonadotrophin independent
Central = puberty occurs in correct sequence, but early

43
Q

Cafe au lait patches and precocious puberty suggests what condition(s)?

A

McCune Albright
NF1

44
Q

What are the causes of Gonadotrophin dependent precocious puberty?

A

Hydrocephalus
Any SOL pressing on thhe hypothalamus
hypothalamic hamartoma
NF1, tuberous sclerosis

45
Q

What are the causes of Gonadotrophin independent precocious puberty

A

McCune Albright Syndrome
Hepatoblastoma
Ovarian cyst/tumour
Testicular tumour
Congenital adrenal hyperplasia
Adrenal tumour

46
Q

Describe Thelarche

A

Fluctuating or even cyclical unilateral or bilateral breast enlargement in an otherwise healthy girl starting soon after birth with no other symptoms or signs of puberty including growth acceleration.

47
Q

Describe Exaggerated Adrenarche

A

5-8 years adrenal glands proudce androgens, most children asymtomsativ some develop:
Adult sweat odour, acne, axillary hair and/or sparse, long, pubic hair confined to the vulva in girls and the base of the penis in boys.

48
Q

What is the treatement for Adrenarche?

A

diagnosis of exclusion assessed clinically by the absence of virilisation or growth acceleration plus normal biochemistry and no significantly advanced bone maturity.
Education, a/w insulin sensitvity

49
Q

Define Kallman syndrome

A

Genetic disorder causing hypotrophic hypogonadism (therefore pubertal delay) and anosmia

50
Q

What are the commonest causes of pubertal delay in males and females?

A

Male- Klinfelters
Female- Turners

AKP (25 decks)

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