endocrine- ILA + lecs Flashcards
Diagnosis: Child presents with weight loss; polyuria and polydipsia (?); and 1 day hx of less PU, stomach ache and unresponsiveness. GCS is 8 at ED. She appears 5% dehydrated
T1DM DKA
How would you manage T1DM in a child?
Correct dehydration evenly over 48 hours. This will correct the dehydration and dilute the hyperglycaemia and the ketones. Correcting it faster increases the risk of cerebral oedema.
Give a fixed rate insulin infusion. This allows cells to start using glucose again. This in turn switches off the production of ketones.
Other important principles:
Avoid fluid boluses to minimise the risk of cerebral oedema, unless required for resuscitation.
Treat underlying triggers, for example with antibiotics for septic patients.
Prevent hypoglycaemia with IV dextrose once blood glucose falls below 14mmol/l.
Add potassium to IV fluids and monitor serum potassium closely.
Monitor for signs of cerebral oedema.
Monitor glucose, ketones and pH to assess their progress and determine when to switch to subcutaneous insulin.
What causes reduced GCS in DKA and how do you treat it?
Raised ICP- To reduce ICP can give hypotonic saline or mannitol
How do manage shock from DKA?
If in shock give 0.9% saline. Dehydration then corrected over 48 hrs with saline, Kcl and insulin.
Difference between adults and children DKA management?
In contrast to adults it is permissible to start insulin before having a potassium level back on your patient. Plus give IV fluids before insulin
What are the targets for ketones, bicarb, glucose and potassium in DKA? What do you do if these are not achieved?
The recommended targets are a reduction of the blood ketone concentration by 0.5 mmol/L/hour, an increase of the venous bicarbonate by 3.0 mmol/L/hour, a reduction of capillary blood glucose by 3.0 mmol/L/hour and to maintain K+ between 4.0 and 5.5 mmol/L. If these rates are not achieved then the insulin infusion rate should be increased.
What fluids do you give a child in DKA initially and then after 48 hrs?
- Saline .9%, 10ml/ kg (to avoid cerbral oedema) bolus
2. 0.9% saline plus glucose for maintain plus KCl
What is the follow up mx for DkA?
Check ups for htn, renal disease, eyes, feet, circulation
Check for autoimmune problems such as thyroid and coeliac
S/C insulin
Lifestyle advice
Diagnose neonate presenting with high TSH and low weight
Congenital hypothyroidism
What is the most likely cause of congenital hypothyroidism:-
a) worldwide?
b) In the UK?
c) In a consanguineous pedigree -incest?
a) Iodine deficiency
b) Maldescent of the thyroid (thyroid fails to descend from the sublingual position to larynx in fetal development)
c) Dyshormonogenesis- an inborn error of thyroid hormone synthesis
How could you differentiate clinically between maldescent of the thyroid and other causes of congenital hypothyroisism?
In maldescent the thyroid remains as a lingual mass
What condition has the introduction of screening helped prevent?
Congenital hypothyroidism in olden days was kretinism are usually detected with routine neonate biochemical screening (guthrie test) - looks for raised TSH
Symptoms of congential hypothyroisim?
faltering growth, feeding problems, jaundice, constipation, pale skin, large tongue, hoarse cry, goitre, umbiblical hernia, delayed development, hypotonia, macro Glossia
How would CH be treated?
Levothyroxine
What are the differential diagnoses for a collapsed and shocked neonate?
Pneumothorax
Patent ductus arteriosum – give prostaglandins
Metabolic eg hypoglycaemia, electrolyte imbalance eg raised ammonia means urea cycle problem
Non accidental injury- shaken baby
Infection- sepsis
Obstruction
What is your immediate management of neonate in shock?
Clear airway, oxygen, ventilate Septic screen Obs, blood gas and glucose Weight Keep warm Do platelt and netrophil count, U+Es (lactate, urea, creatinne, elctrolytes), cultures, CRP
What does pH of 7.36, low sodium, high potassium,low co2 and low o2, low base excess and low HCO3 mean on the blood gas?
metabolic acidosis
potassium is high as is exchanged for H+ ions to incrase pH
Causes in neonates of metabolic acidosis?
Cardiac lesion, congenital adrenal hyperplasia, hypovalaemic shock and sepsis will cause metabolic acidosis
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia most commonly deficient in enzyme that means no glucocorticoids and mineralcoritcoids (aldosterone - low sodium and high potassium)
Diagnose with low sodium, high K, metabolic acidosis and hypoglycaemia
Difference between gluco and mineralcorticoids?
Glucocorticoids are cortisol for when unwell
Mineracorticosoids eg aldosterone keep sodium, chloride and potassium (salts) IN CONTROL
How would you manage CAH in the first 24 hours a?
IV saline, glucose and hydrocortisone initially. Later give flusdocortisone once had hydrocortisone. Give salbutamol in children to reduce potassium.
How would you manage CAH long term
Long term have glucocorticoids (hydrocortisone) to suppress ACTH levels and allow normal growth. Give long term mineralcorticoids ( fludrocortisone) if there is salt loss. Monitor growth, skeletal maturation and plasma androgens.
Fix genitalia later
How do baby girls present with CAH?
With virilisaion of the external genitalia in female infants with clitoral hypertrophy
In male penis enlarged and scrotum pigmented - usually missed and so present with a salt crisis: vomiting and weight loss or with precocious puberty
What is antenatal treatment for CAH ?
If strong Fhx can offer mother dexamethasone tablets
What is the SE on female baby if womans takes dexa in pregnancy?
Dexa can cause organomegaly in female genitalia
What are the determinants of growth?
Parent pheno and genotype Nutrition Pregnancy Organ integrity Psycho social GH and hormones
What is chondrogenesis?
process by which cartilage is developed, achondroplasia and hypochondroplasia are disorders of this process which may lead to dawarfism
How do adults versus newborns grow?
- Newborns: larger head, smaller mandible, short neck, chest rounded, abdomen prominent, limbs short
- Adults: relative growth of limbs compared to trunk
What are the normal ranges on a growth chart?
normal ranges are between 3rd and 97th centile.
What are the different types of head growth problems?
Microcephaly – familial or can be cause by hypoxia or infection
Macrocephaly – raised ICP
Craniosynsotosis- skull bones start to fuse prematurely- head shape distorted
Plagiocephaly – flattening head
When are the fastest stages of growth and when does growth end?
Fastest growth rate in utero and infancy
• Growth ends with fusion of epiphyses (Oestrogen effect)
what are the first stages of puberty in girls vs boys?
Breast buds = first in girls
Increase in testicular volume = first in boys
When does puberty start (early + late) in boys and girls?
Female puberty: early: 8 late: over 13
Male puberty early start: before 9 late start: after 14
What are the Tanner stages in boys?
I Prepubertal: No pubic hair • Testicular length <2.5 cm • Testicular volume <3.0 mL
II • Sparse growth of slightly curly pubic hair, mainly base of penis • Testes > 3 mL (testes enlargement first thing) (>2.5 cm in longest diameter) • Scrotum thinning and reddening
III • Thicker, curlier hair spread to mons pubis • Growth of penis in width and length; further growth of testes
IV • Adult-type hair, not yet spread to medial surface of thighs • Penis further enlarged; testes larger, darker scrotal skin colour
V • Adult-type hair spread to medial surface of thighs • Genitalia adult size and shape
What is a orchidometer?
Orchidometer – measures testicular volume in ml
What is Kleinefelter’s?
- chromosome 47, XXY
* Primary hypogonadism
How may Kleinefelters present?
Azoospermia - infertility Gynaecomastia Reduced secondary sexual hair hypogonadism Osteoporosis Tall stature Reduced IQ in 40% 20-fold increased risk of breast cancer
How is Kleinfelters diagnosed?
serum testosterone is low or low normal. FSH and LH are elevated (FSH >LH)
Karyotyping
What is the mx for Kleinfelters?
testosterone SC
What is Hypogonadotropic hypogonadism?
aka secondary hypogonadism
The term hypogonadism describes a low level of circulating sex hormones; testosterone in males and oestrogen and progesterone in females.
The term hypogonadotropic means causation by a disruption in the production of the gonadotropin hormones normally released by the anterior pituitary gland known as luteinising hormone (LH) and follicle stimulating hormone (FSH)
What CNS tumours cause hypogonadotrophic hypogonadism?
- Craniopharyngiomas
- Germinomas
- Hypothalamic and optic gliomas
- Pituitary tumours (including MEN-1, prolactinoma)
Other non-cancerous CNS causes of hypogonatrophin hypogonadism?
langerhans’ histiocytosis; Postinfectious lesions of the CNS ; Vascular abnormalities of the CNS ; Radiation therapy ;Head trauma
What is Isolated Gonadotropin Deficiency?
causes hypogonadotrophic hypogonadism
due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function and anatomy of the anterior pituitary is otherwise normal and secondary causes of HH are not present.
What are causes of isolated gonadrotropin deficiency?
Kallmann’s syndrome LHRH receptor mutation Congenital adrenal hypoplasia (DAX1 mutation) Isolated LH deficiency Isolated FSH deficiency
What is Kallmanns syndrome?
genetic disorder which causes hypothalamic gonadotrophin releasing hormone deficiency and deficient olfactory sense
How may Kallmanns present?
anosmia
associated with nerve deafness, colour blindness, mid-line cranio-facial deformities such as cleft palate or harelip, and renal abnormalities.
Females may present with primary amenorrhoea; males with cryptorchidism (testes fail to descend)
Other causes of delayed puberty with an intact hypothalamo-pituitary axis?
hypothyroidism Prader-Willi syndrome Laurence-Moon and Bardet-Biedl syndromes Functional gonadotropin deficiency Chronic systemic disease and malnutrition Sickle cell disease Cystic fibrosis AIDS Chronic renal disease Bulimia Impaired puberty and delayed menarche in female athletes and ballet dancers (exercise amenorrhea) Marijuana use Gaucher’s disease
What are the Tanner stages in girls?
I • Prepubertal: No pubic hair • Elevation of papilla only
II • Sparse growth of long, straight or slightly curly, minimally pigmented hair, mainly on labia • Breast bud (first sign) noted/ palpable; enlargement of areola
III •Darker, coarser hair spreading over mons pubis • Further enlargement of breast and areola, with no separation of contours
VI • Thick adult-type hair, not yet spread to medial surface of thighs • Projection of areola and papilla to form secondary mound above level of breast
V • Hair adult-type and distributed in classic inverse triangle • Adult contour breast with projection of papilla only
What is Turner syndrome?
missing a X chromosome on number 45 (XO)
How does Turner’s syndrome present?
At birth oedema of dorsa of hands, feet and loose skinfolds at the nape of the neck
• Webbing of neck, low posterior hairline, small mandible, prominent ears, epicanthal folds, high ached palate, broad cheast, cubitus valgus, hyperconvex fingernails
short stature!
Primary amenorrhoea!
What are complications of Turners?
Cardiovascular malformations Renal malformations (horseshoe kidney) hypothyroidism Recurrent otitis media osteoporesis
What ix should be done for Turners?
karyotype LH and FSH (increase) TFTs HbA1c U+Es ECG hearing test BMD
What is the mx of Turners?
mx complications
GH and oestrogen at puberty for short stature
Common causes of short stature?
Constitutional (delayed puberty), Slow maturation (genetic - familial, grow within predicted range for parental height), delayed puberty
Environmental – psycho-social
Nutrition – pre- or postnatal
Chronic disease eg IBD, coeliac’s, congenital heart disease, kidney, severe anaemia, CF -> poor nutrition
Skeletal disease
Turner’s syndrome or noonans or downs – look for dysmorphic features
Endocrine eg hypothyroid/ GH deficient/ cushings – show faltering growth – weight higher than height
Achondroplasia (dawarfism)
Ix of short stature?
FBC – anaemia of chronic disorders U+E- CKD Calcium, phosphate and alkaline phosphatase – renal and bone TSH Karyotype – turners EMA, anti TTG, IgA – coeliacs Growth hormone CRP/ ESR – chronic disease Cortisol and dexamethasone suppression test – cushings MRI – craniopharyngioma tumour
Mx of short stature?
Treat cause
Growth hormone – in hormone deficiency, prader-willi, turners, IUGR
Causes of overgrowth with impaired final height?
- Precocious Puberty
- Congenital adrenal hyperplasia
- McAlbright syndrome
- Hyperthyroidism
causes of overgrowth with increased final height?
- Androgen/ or oestrogen deficiency/ oestrogen resistance
- GH excess - gigantism
- Klinefelter syndrome (XXY) - long legs
- Marfan syndrome - long legs
What are sx of Congenital hypothyroidism?
Sx- faltering growth, feeding problems, prolonged jaundice, constipation, pale/cold/mottled skin, large tongue, goitre, delayed development
What can cause Acquired hypothyroidism in children?
Usually caused by autoimmune thyroiditis
Associated with downs and turners
What are sx of acquired hypothyroidism?
Sx: short stature, cold intolerance, dry skin, cold peripheries, pale and puffy with loss hair, goitre, bradycardia, slow relaxing reflexes, constipation, delayed puberty, poor concentration
WHat is normally the cause of Hyperthyroidism in children?
Normally caused by graves disease
How does hyperthyroidism present on blood test?
T4 and T3 elevated, TSH low
How is hyperthroidism treated
Treat with carbimazole, interferes with thyroid hormone synthesis.
Beta blockers for symptoms
What are the sx of hyperthyroidism?
Sx: anxious, restless, increased appetite, sweaty, diarrhoea, weight loss, tremor, tachycardia, warm peripheries, goitre, psychosis, exomphalos, ophthalmoplegia, lid lag
What is usually the cause of hypoparathyroid in children?
If low is usually due to congenital reasons – digeorge syndrome
mx of hypoparathyroid?
Treat low parathryoid with calcium gluconate
sx of hyperparathyroid?
high calcium – so constipation, anorexia, lethargy, polyuria, polydipsia – associated with William syndrome in young children
What are the common causes of addisons in a child?
may be infarct, autoimmune, TB
how does addisons present?
Present with low Na, high K, low glucose, hypotension, dehydration, vomit, lethargy, brown pigmentation
Cortisol low and ACTH high
how do you mx addisons?
treat with saline, glucose and hydrocortisone
What is normally the cause of cushings in a child?
Normally due to steroid treatment
Other rarer causes eg pituitary adenoma
how does cushings present?
Diurnal variation in cortisol lost, 24 hr free urine cortisol is high, failure to suppress cortisol with dexamethasone
What values give diagnosis of DM in children?
fasting glucose >7
post OGTT >11.1
HbA1c >6.5%
what is the pathophysiology of T1DM?
Pathophysiology: autoimmune problem caused by destruction of beta cells in the pancreas which produce insulin. Insulin increases uptake of sugar to cells and the liver where it is stored as glycogen. Blood sugar levels overall decrease, but this cannot happen in T1DM.
sx of T1DM?
polyuria and dipsia, lethargy, weight loss, +4 ketones or glucose on urine, blood sugars increased (REMEMEBER 4 ts: toilet, thirst, tired, thin)
what are the aims for controlled DM blood sugar levels
Mx: Aim for blood sugar of between 4-7mmol, HbA1c <488mmol with IM insulin
What are the complications of DM?
Monitor foot, eye, BP, urine and injection site. Check for coeliac, microalbuminaemnia and thyroids.
What is the pathophysiology behind DKA?
Insulin is low which means glucagon is not inhibited and there is high levels of sugar in the blood but it cannot access the cells. So, the cells need sugar for respiration etc, they therefore start making sugar from alternate resources –> rhabdomyolysis and lipolysis take place. Lipolysis involves breaking down lipids to glycerol and free fatty acids which become ketones (another alternative energy source)
The high ketone level leads to vomiting and acidosis
High blood sugar levels create an osmotic diuresis –> fluid and electrolyte depletion –> shock and cerebral oedema
What are the sx of DKA?
Sx: kussmaul breathing (shallow and fast as try to blow off acid), low CO2 due to hyperventilation, increased RR, pH low, base excess and bicarbonate low
What would be seen on blood tests for DKA?
Ix: pH <7.3, HCO3 <18, ketone <3, blood glucose >11
mx for DKA?
Mx: fluids and potassium replacement FIRST followed by insulin. Monitor glucose hourly and electrolytes (particularly ketones and K+) 2 hourly. Do hourly neuro obs (cerebral oedema). Infusion only fluids.
What is the glucose value for hypoglycaemia?
Blood sugar of less than 4mmol
sx of hypoglycemia?
Sx: Irritable, Hungry, Nauseous, Shakey, Pallor, Anxious, Sweaty, Palpitations, Pallor
Neuro sx: Dizzy • Headache • Confused • Drowsy • Visual problems • Hearing loss •Problem concentrating •Hearing loss •Slurred speech •Odd behaviour •LOC •Convulsions
mx of hypoglycaemia?
Mx: check blood glucose, have glucose tablet and FU with longer acting carb eg bread if no improvement in 10 mins
If unconscious give IM glucagon and when conscious give sugar
