Endocrinology and growth Flashcards by daf stonehewer

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

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

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Define holoprosencephaly

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

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How might congenital pituitary disorders present in the neonate?

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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What hormone is produced in the posterior pituitary lobe?

Anti-diuretic hormone

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What hormones are produced in the anterior pituitary lobe?

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

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

Prader-Willi Syndrome

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What are the side effects of growth hormone replacement therapy?

Headache, idiopathic intracranial hypertension, lipohypertrophy

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What are the side effects of cortisol replacement therapy?

Cushings syndrome features

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What are the side effects of thyroid hormone replacement therapy?

Sleep and behaviour problems, headache, idiopathic intracranial hypertension

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

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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What are the features of a Prolactinoma?

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

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Define Cranial Diabetes insipidus

Insufficient ADH

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What are the congenital causes of Cranial Diabetes insipidus?

Septo-optic dysplasia, holoprosencephaly

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Define Renal Diabetes Insipidus

Renal Resistance to ADH

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What are the causes of Renal Diabetes Insipidus

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

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What are the Aquired causes of Cranial Diabetes Insipidus ?

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

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

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

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

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

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What does a water depirvation test involve?

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

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What are the symptoms of diabetes insipidus?

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

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

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

Describe SIADH

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

What are the symptoms of SIADH?

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

What are the medical causes of SIADH?

RESP and CNS infections, trauma, pain, raised ICP

What drugs can cause SIADH?

Carbamezapine, cyclophosphomide, sodium valproate

What is the treatment for SIADH?

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

What somolarity is diagnositic of SIADH

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

What physiological sign is pathagnomic for primary adrenal insufficiency?

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

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

What enzyme deficiency commonly causes CAH?

What are the laboratory features of an adrenal crisis?

What is the test for CAH?

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

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

Autoimmune destruction of adrenal cortex Adrenal insufficiency + increased pigmentation

What is the test for Addison's diease?

Short Synacthen test. Low cortisol despite ACTH stimulation.

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

How is adrenal insufficiency treated?

Oral hydrocortisone and fludrocortisone increase doses when sick.

What are the inital investigation done to confirm hypercortisolism?

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.

What are the causes of Cushings disease?

ACTH secreting pituitary tumour Cortisol secreting adrenal tumour

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

Non-toxic goitre

What is the first stage of puberty in boys?

increasing testicular volume

What is the first stage of puberty in girls?

Breast budding

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

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

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

McCune Albright NF1

What are the causes of Gonadotrophin dependent precocious puberty?

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

What are the causes of Gonadotrophin independent precocious puberty

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

Describe Thelarche

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.

Describe Exaggerated Adrenarche

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.

What is the treatement for Adrenarche?

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

Define Kallman syndrome

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

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

Male- Klinfelters Female- Turners