Endo & Growth Flashcards

Question

how do we treat delayed puberty of organic/permanent cause?

Answer 1

• Girls - Organic cause: ▪ Pubertal induction with oestrogen – weekly transdermal patch of gradually increasing dose over 6 months to adult dose - note : do NOT give COCPs instead! ▪ Cyclical progesterone after breakthrough bleeding or adequate oestrogenisation o If Turners → give GH subcut daily ± oxandrolone (until 12-14 y/o) - If the diagnosis is made late, oxandrolone added to promote linear growth. • Boys – organic cause o Pubertal induction with testosterone – IM every 6 weeks for 6 months then increase dose and increase frequency until adult dose reached -> side effects: hyper aggression and hyper sexuality for a few days post dose.

Answer 2

Premature sexual development is the development of secondary sexual characteristics before 8y in females and 9y in males • Precocious puberty is when its accompanied by a growth spurt

Answer 3

Gonadotrophin dependent – central – from premature activation of HPA o Gonadotrophin independent – pseudo – from autonomous excess sex steroid secretion

Answer 4

FEMALES • Most commonly due to premature onset of normal puberty - Idiopathic * Abnormal or organic cause when there is dissonance (sequence of pubertal changes is abnormal - if the sequence is normal then should be normal) * Red flags: Rapid onset, neuro symptoms or signs MALES • Most commonly has an organic cause eg abnormal

Answer 5

Females: • IX → US of ovaries and uterus o In premature onset of NORMAL puberty, multicystic ovaries and enlarging uterus will be identified (most common) • Rule out gonadal tumour, cysts Male: • Examination of testes o Bilateral enlargement → gonadotrophin release – usually intercranial lesion o Small testes → adrenal cause → tumour or CAH o Unilateral → gonadal tumour • MRI for suspected intercranial tumour * Non-dominant wrist x-ray to assess skeletal age * Check basal LH/FSH, serum testosterone and oestrogen * LHRH stimulation test – (suppressed LH/FSH if G-independent) Gonadotrophin-dependent (↑LH > ↑FSH) Gonadotrophin-independent (↓FSH, ↓LH, Rare)

Answer 6

1. Gonadotrophin dependent disease o Give GNRH analogues o Only pulsatile exposure triggers pubertal progression, continuous exposure suppresses o ± growth hormone if required 2. Gonadotrophin independent o Identify source of excess sex steroids and give androgen or oestrogen inhibitors * Increased testosterone or McCune Albright → ketoconazole as inhibitor of steroid synthesis * CAH → hydrocortisone + GNRH analogue * Tumours → surgery

Answer 7

* Pubic OR Axillary hair before 8y in females and 9y in males * Along with NO other signs of sexual development * May be slight increase in growth rate An adult-type axillary body odor is the other major clinical finding. Aetiology: weak androgens secreted by adrenals (this is NOT the usual steroids) * Most commonly due to accentuation of normal maturation of androgen production by adrenal gland * More common in Asian or Afro-C • Usually self-limiting Ivx: Obtaining a urinary steroid profile, Blood androgens levels Bone age • If more aggressive virilization – consider non-classical congenital adrenal hyperplasia or adrenal tumour (virilising tumour) main differential - non-classical CAH, virilising tumour

Answer 8

• precocious puberty • premature breast development (thelarche) • premature pubic hair development (pubarche or adrenarche) • isolated premature menarche.

Answer 9

Girls who develop premature pubarche are at an increased risk of developing polycystic ovarian syndrome in later life.

Answer 10

This usually affects females between 6 months and 2 years of age. The breast enlargement may be asymmetrical and fluctuate in size, rarely progressing beyond stage 3 of puberty. It is differentiated from gonadotrophin-dependent precocious puberty by the absence of axillary and pubic hair and of a significant growth spurt. It is nonprogressive and self-limiting. Investigations are not usually requiredq

Answer 11

* Most common type of skeletal dysplasia * Auto dom but 80% sporadic mutations * Caused by mutation in fibroblast growth factor receptor 3 – FGFR3 ``` Clinically: • Short stature, shortening of limbs • Large head, frontal bossing, depression of nasal bridge • Short, broad hands • Marked lumbar lordosis • ± hydrocephalus ```

Answer 12

Not apparent until more than 22w GA so may be missed • Diagnosis made by clinical features and XR findings; o Metaphyseal irregularity, flaring in long bones, late-appearing irregular epiphyses • Full skeletal survey ± confirmatory molecular analysis identifying disproportionate short stature • sitting height – base of spine to top of head • subischial leg length – subtraction of sitting height from total height Management: * Regular follow up to detect complictions; * Gross motor skill delay, kyphosis, early osteoarthritis, risks from hydrocephalus, obesity, ENT issues * No evidence of benefit from growth hormones * Final height varies from 80cm to 150cm • use Condition specific centile charts

Answer 13

When a girl with little or no breast development has vaginal bleeding, this causes great concern for parents and providers. This condition, sometimes referred to as "premature menarche," has been well-described in the literature, although its cause is unknown. Studies show that hormonal levels are prepubertal, and pelvic ultrasonography shows a prepubertal uterus and ovaries. The bleeding can occur monthly but resolves in a few months, so reassurance and watchful waiting are often the best course. In persistent cases, a foreign body such as toilet paper may be found on pelvic exam.

Answer 14

constitutional delay aka late bloomers

Answer 15

chronic illness malnutrition endocrine

Answer 16

familial short stature - ALL family members are short = be sure to rule out skeletal dysplasia

Answer 17

``` Short stature is usually defined as a height below the second centile (i.e. 2 SDs below the mean). ``` they usually start below the centiles and remain there. if they are falling down centiles (reducing height velocity), this is growth failure

Answer 18

1 in 50 children have short stature | - most will be normal, with short parents

Answer 19

Two accurate measurements at least 6 months but preferably a year apart allow calculation of height velocity in cm/year - highly dependent on the accuracy of the height measurements and so tend not to be used outside specialist growth clinics

Answer 20

(mum height + dad height)/2 + 7cm - boy (mum height + dad height)/2 - 7cm - girl

Answer 21

Constitutional delay - most common Familial short stature: - growth course follows predicted midparental height SGA - Small for gestational age and extreme prematurity: -GH treatment may be indicated if there is insufficient catch-up growth by 4 years of age. Chromosomal: Turners & Russell-silver - may present with short stature and minimal symptoms. Nutritional/long-term illness: usually short and underweight, i.e. their weight is on a lower centile than their height. - Iron deficiency - Coeliac - can present with short stature without GI sx - Chrons, CKD (due to increased metabolic demand) - CF (malabsorption), CHD Psychosocial deprivation: Environmental understimulation / neglect or abuse (may fail to grow despite adequate calories due to emotional neglect) Endocrine Hypothyroidism, GH deficiency, IGF-1 deficiency, and steroid excess -> Cushings Extreme short stature abnormalities in a gene called short stature homeobox (SHOX) located on the X chromosome lead to severe short stature with skeletal abnormalities

Answer 22

endocrine causes of SS

Answer 23

autoimmune thyroiditis - growth failure, usually with excess weight gain NOT congenital hypothyroid as that is discovered and treated early.

Answer 24

Visual defects if there is a pituitary tumour, that has resulted in GH deficiency - bitemporal hemianopia

Answer 25

history of long term health condition eg asthma that they are taking STEROIDS for cushings in kids is usually caused by steroid excess rather than adrenal/pituitary issue: alternate the days on steroid therapy but even low doses may still not stop growth failure + excess weight gain

Answer 26

GH deficiency is treated with biosynthetic GH, which is given by subcutaneous injection, usually daily. It is expensive and the management of GH deficiency is undertaken at specialist centres. The best response is seen in children with the most severe hormone deficiency. Other indications include Turner syndrome, Prader–Willi syndrome, CKD, SHOX deficiency, and intrauterine growth restriction or SGA with failure of catch-up growth

Answer 27

• Small for gestational age or small for dates – if birthweight <10th centile for GA

Answer 28

• Majority are normal, some may be due to IUGR – failure to reach fully genetically determined potential 1. Asymmetrical growth restriction • More common, weight or abdo circumference is on lower centile than head * Occurs when placenta fails to provide adequate nutrition late in pregnancy – brain growth is spared at expense of liver glycogen and skin fat. Head is disproportionally bigger than weight& length eg head is in 50th centile but weight/ length are in 8th and 7th centiles. * Associated with uteroplacental dysfunction secondary to maternal PET, multiple pregnancy, maternal smoking, idiopathic * These babies rapidly put on weight after birth 2. Symmetrical growth restriction • Head circumference is equally reduced as weight and length so baby has normal proportions. • Suggests prolonged period of poor intrauterine growth starting in early pregnancy • Usually due to small but normal foetus • Could be due to chromosomal disorder or syndrome, congenital infection, maternal drug or alcohol abuse, malnutrition or chronic medical condition • These babies more likely to stay small permanently

Answer 29

``` Prentatal period: • Chromosomal disorders – Down’s syndrome, fragile X (has trinucleotide repeats) • Cerebral dysgenesis, e.g. microcephaly, hydrocephalus • TORCH infections • Metabolic causes – hypothyroidism • Teratogens - alcohol and drugs • Cerebral palsy ``` Perinatal period: - Metabolic; neonatal hypoglycaemia, kernicterus - Birth asphyxia; hypoxic brain injury Postnatal period: •Anoxic episodes: Epilepsy/seizures, drowning • Infectious causes - Meningitis, encephalitis • Malabsorption disorders – coeliac, IBD • Cerebrovascular - stoke (SCD) • Autism, ADHD, learning disabilities, eating disorders • Physical abuse, emotional neglect

Answer 30

* Isolated developmental delay in one domain * Global delay - numerous causes * FHx of developmental delay or syndromes * Dysmorphic disorders IX

Answer 31

* Screening tests for autism or ADHD * IQ testing * Infection screen * Genetic screen * Metabolic screen

Answer 32

* MDT – SALT, OT, PhysioT, family counselling, behavioural intervention, educational assistance * Manage associated conditions * Prognosis – usually good if isolated but global delay has high association with syndromes – poor also see tutorial (one-note)

Answer 33

• delay – implies slow acquisition of all skills (global delay) or of one particular field or area of skill (specific delay), particularly in relation to developmental problems in the 0–5-year age group • learning difficulty – used in relation to children of school age and may be cognitive, physical, both, or relate to specific functional skills • disorder – maldevelopment of a skill.

Answer 34

* slow but steady * plateau effect • showing regression – acute regression following acute brain injury with subsequent slow recovery but not to normal levels (partial recovery) or slow regression as with neurodegenerative disorders

Answer 35

Global developmental delay (also called early developmental impairment) implies delay in acquisition of all skill fields (gross motor, vision and fine motor, hearing and speech, language and cognition, social/emotional and behaviour). It usually becomes apparent in the first 2 years of life the older, the more obvious abnormalities become to see

Answer 36

Causes of abnormal motor development include: • central motor deficit, e.g. cerebral palsy (CP) CP is the MOST COMMON cause of motor impairment in children, affecting about 2 per 1000 live births. • congenital myopathy/primary muscle disease • spinal cord lesions, e.g. spina bifida • global developmental delay, as in many syndromes, or of unidentified cause. Note: - children with joint hypermobility may also achieve walking later than average (>18mnths). - asymmetry of motor skills during the first year of life is always abnormal (as hand dominance is not acquired until 1–2 years of age or later).

Answer 37

assessment by a neurodevelopmental paediatrician and physiotherapist. Ongoing physiotherapy input and subsequent involvement of an occupational therapist are also likely to be needed.

Answer 38

A permanent disorder of movement and/or posture and of motor function due to a non-progressive abnormality in the developing brain.

Answer 39

disturbances of cognition, communication, vision, perception, sensation, behaviour, seizure disorder and secondary musculoskeletal problem symptoms may present at different times •abnormal limb and/or trunk posture and tone in infancy with delayed motor milestones ; this may be accompanied by slowing of head growth • feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting • abnormal gait once walking is achieved • asymmetric hand function before 12 months of age. Primitive reflexes may persist and become obligatory

Answer 40

80% Antenatal group of causes - cerebrovascular haemorrhage or ischaemia , or maldevelopment Some of these problems are linked to gene deletions 10% - Intrapartum causes: hypoxic-ischaemic injury before or during delivery - high-risk factors for brain damage = significant prematurity or those with difficulties around the time of birth Birth asphyxia 10% are postnatal: meningitis/encephalitis/encephalopathy, head trauma from accidental or non-accidental injury, symptomatic hypoglycaemia, hydrocephalus and hyperbilirubinemia

Answer 41

spastic: bilateral, unilateral, not otherwise specified (90%) - upper motor neurone damage (corticospinal tract) pathway - Increased tone : PREDOMINANT sign! - dynamic catch, which is the hallmark of spasticity. -> worse with exercise/movement • dyskinetic (6%) - movements are involuntary, uncontrolled, occasionally stereotyped and often more evident with active movement or stress. * ataxic (4%) * other. Bilateral (quadriplegia) – all four limbs are affected, often severely. Bilateral (diplegia) – all four limbs, but the legs are affected to a much greater degree than the arms, so that hand function may appear to be relatively normal

Answer 42

Spastic cerebral palsy Affected limbs may initially be flaccid and hypotonic, but tonicity increases eventually page 63 LISSAUER is good

Answer 43

May be described as: • chorea – irregular, sudden and brief non-repetitive movements • athetosis – slow writhing movements occurring more distally such as fanning of the fingers • dystonia –twsiting appearance Intellect may be relatively unimpaired. due to hypoxic-ischaemic encephalopathy at term (the 10%)

Answer 44

so legs more affected than arms. Young child – pattern with walking on their toes with scissoring of the legs. Older child – crouch gait pattern is typical when the child gets heavier and can’t remain on their toes Usually no feeding or communication difficulties and good cognition

Answer 45

Typical dystonic pattern with open mouth posture and internal rotation and extension of the arms. Mixture of motor patterns including dystonia, athetosis and chorea Cognition may be preserved but feeding difficulties are common. Risk of hip deformity and scoliosis. Many are dependent on others for activities of daily living due to their severe movement difficulties. Usually GMFCS level 4–5 ie in a wheelchair

Answer 46

Spastic or dystonic tone, one side of body affected (opposite to the side of the brain lesion) Arm often more affected than leg May have visual field defect on side of hemiplegia Risk of learning difficulties and seizures

Answer 47

Both arm and leg involvement – predominantly spastic but dystonia often also present. Associated with learning difficulty, feeding difficulties, problems with speech, vision and hearing. Seizures common. At increased risk of hip subluxation and dislocation and scoliosis. Usually dependent on others for activities of daily living Powered mobility a common requirement Usually GMFCS level 4–5 ie in a wheelchair

Answer 48

Delays: • hearing loss • global developmental delay • difficulty in speech production from an anatomical deficit, e.g. cleft palate, or oromotor incoordination, e.g. CP • environmental deprivation/lack of opportunity for social interaction • normal variant/familial pattern. Speech and language disorders include disorders of: • language comprehension • language expression – inability or difficulty in producing speech whilst knowing what is needing to be said • stammering (dysfluency), dysarthria or verbal dyspraxia • social/communication skills (autistic spectrum disorder).

Answer 49

• the Symbolic Toy test, which assesses very early language development • the Reynell test for eexpressive and receptive language refer to speech and language therapist SALT

Answer 50

dyslexia, dyscalculia

Answer 51

Maldescent of the thyroid and athyrosis (75%)– the most common cause of sporadic congenital hypothyroidism. supposed to migrate from a position at the base of the tongue to below the larynx but doesn't. partial or complete failure to develop. * Disorder of thyroid hormone metabolism (10%) – TSH unresponsiveness or defects in thyroglobulin structure, inherited * Hypothalamic or pituitary dysfunction (5%)– can include tumours, ischemic damage, congenital defects * Transient hypothyroidism (10%) – can be due to maternal meds (carbimaozole) or maternal antibodies (maternal thyroid disease with IgG antibodies) Hypothyroidism due to TSH deficiency – Rare (<1% of cases) due to pituitary dysfunction. • dyshormonogenesis – an inborn error of thyroid hormone synthesis. 5% to 10%. more common with consanguinity • iodine deficiency – the most common cause of congenital hypothyroidism worldwide - rare in developed nations.

Answer 52

Usually asymptomatic and picked up on screening. ``` Clinical features: • faltering growth ! • feeding problems ! • prolonged jaundice ! • constipation ! • pale, cold, mottled dry skin • coarse facies • large tongue • hoarse cry • goitre (occasionally) • umbilical hernia • delayed development ! ``` ``` later on in life/sx of acquired hypothyroid: Slow-relaxing reflexes Delayed puberty/ amenorrhoea Obesity Slipped upper femoral epiphysis SUFE Poor concentration Deterioration in school work Learning difficulties ```

Answer 53

(Guthrie test) performed on all newborn infants, by identifying a raised TSH in the blood. However, thyroid dysfunction secondary to pituitary abnormalities will not be picked up at neonatal screening as they have a low TSH. measure thyroid autoantibodies ± US or radionucleotide scan Rx: lifelong thyroxine PO - must alter dose as TFTs adapt. Monitor growth and developmental milestones. good outcome, no intellectual inhibition

Answer 54

This is usually caused by Hashimoto’s autoimmune thyroiditis. Female > Male Down syndrome or Turner syndrome have high risk of developing autoimmune disorders, e.g. vitiligo, rheumatoid arthritis, diabetes mellitus. In some families, Addison disease may also occur. There is growth failure accompanied by delayed bone age. Goitre is often present but this may also be physiological in pubertal girls. ivx: Thyroid peroxidase antibodies (TPOAb) and thyroglobulin antibodies (TgAb) Treatment is with thyroxine.

Answer 55

(Graves disease) thyroid-stimulating antibodies (TSIs), TSH receptor antibodies (TSH-rAb) The clinical features are similar to those in adults, although eye signs are less common. It is most often seen in teenage girls. Neonatal hyperthyroidism: can be caused by plavental transfer of TSIs -> from a mother with hyperthyroid to fetus. Needs urgent treatment.

Answer 56

1• Calcium deficiency – due to diet or malabsorption 2• Vitamin D o Deficiency – diet, malabsorption, lack of sunlight, iatrogenic (drug induced – phenytoin therapy) o Metabolic defect – due to 1α hydroxylase deficiency, liver disease, renal disease o Defect in action – mutations in vitamin D receptor gene = end-organ resistance to vitamin D • Rickets – low maternal vitamin D may adversely affect developing fetal brain – shown to affect postnatal head and linear growth 3• Phosphate deficiency A o Renal tubular phosphate loss – isolated → hypophosphatemic rickets ▪ X-linked, Auto Rec or Auto Dom B o Acquired hypophosphatemic rickets ▪ Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs C o Reduced phosphate intake

Answer 57

* Growth delay or arrest * Bone pain, fracture * Skeletal deformities – swelling of wrists, swelling of costochondral junctions (rickets rosary), bowing of long bones, frontal cranial bossing * Delayed closure of anterior fontanelle * Delayed dentition * Misery * Hypotonia * Seizures - remember Ca is low O/E: - Harrisons sulcus - indentation of the lower rib cage where the diaphragm attaches - Widened wrists and ankles Ivx: Xray - poorly mineralised bones, cupping and fraying of the metaphyses and a widened epiphyseal plate.

Answer 58

1 • Prevention o All infants should receive vitamin D daily (part of fortified formula or multivitamin); pregnant or lactating mothers should receive 400IU daily 2 • Dietary sources o Fatty fish, egg yolk, fortified foods, shop bought milk, cereals 3 • Correct low Vit D levels with increased intake o Ca supplements o Oral Vit D2 (ergocalciferol) or oral vit D3 (cholecalciferol) o Measure serum Ca, phosphate, Alk Phos, urine Ca:Creatinine ratio periodically

Answer 59

Familial tall stature Chronosomal: Kleinfelters 47 XXY Soto's syndrome Precocious puberty - tall early, short overall Endocrine disorders - GH excess - thyrotoxicosis

Answer 60

Child has growth potential

Answer 61

• Type 1. Most childhood diabetes – Destruction of pancreatic β-cells by an autoimmune process • Type 2. Insulin resistance followed later by β-cell failure – Usually older children, obesity-related, positive family history, not as prone to ketosis, more common in some ethnic groups (e.g. Black and Asian children) • Other types – Maturity onset diabetes of the young – various types caused by genetic defects in β-cell function. Strong family history. – Drugs, e.g. corticosteroids – Pancreatic insufficiency, e.g. cystic fibrosis, iron overload in thalassaemia – Endocrine disorders, e.g. Cushing syndrome – Genetic/chromosomal syndromes, e.g. Down and Turner – Neonatal diabetes: transient and permanent secondary to defective B cell function. – Gestational diabetes

Answer 62

An environmental trigger exhibits Molecular mimicry for an antigen on the surface of β-cells of the pancreas. Triggers : enteroviral infections (most common) diet - cow’s milk proteins In genetically predisposed individuals, this results in an autoimmune process which damages the pancreatic β- cells and leads to increasing insulin deficiency Markers of β-cell destruction include: antibodies to glutamic acid decarboxylase (GAD), the islet cells and insulin.

Answer 63

Late sign in diabetes ``` • Smell of acetone on breath • Vomiting • Dehydration • Abdominal pain • Hyperventilation due to acidosis (Kussmaul breathing) • Hypovolaemic shock • Drowsiness • Coma and death ```

Answer 64

The diagnosis is usually confirmed in a symptomatic child by finding; 1. a markedly raised random blood glucose (>11.1 mmol/L), 2. glycosuria 3. Cap Blood ketones >3.0mmol/L A blood glucose, capillary gas and ketone level will confrim DKA - tutorial U&Es – demonstrate dehydration Blood gas – shows severe metabolic acidosis Urine glucose and ketones – both present ECG – shows T wave changes of hypokalaemia – can be fatal if doubt: 1. fasting blood glucose (>7 mmol/L) 2. raised (HbA1c) An OGTT is rarely required to diagnose type 1 diabetes in children.

Answer 65

Type 2 - its a sign of insulin resistance.

Answer 66

1. ABCDE approach and don’t ever forget glucose 1b. Rehydration (0.9% NaCl with K added in) – treat dehydration over 48 hours - If child shocked – give intial fluid bolus 2. FIXED RATE IV Insulin therapy – usually 0.1 units/kg/hour 3. Potassium correction - add from start if hypokalaemic ORAL rehydration with subcutaneous insulin : Patients with <5% dehydration who are not clinically unwell, ie mild acidosis and no nausea or vomiting, can be given this IV fluids and potassium replacement should occur for 1-2 hours before starting insulin, by which point the blood glucose should have started falling. Check that blood glucose and ketones are falling

Answer 67

→ Mild - pH <7.3 or bicarbonate <15 mmol/L → Moderate - pH <7.2 or bicarbonate <10 mmol/L → Severe - pH <7.1 or bicarbonate <5 mmol/L

Answer 68

The following are recommended criteria for admission to PICU/HDU: o Severe acidosis (pH <7.1) with marked hyperventilation o Severe dehydration or shock o Depressed consciousness with risk of aspiration from vomiting o Very young (ie aged <2 years) o Insufficient staffing on wards

Answer 69

Aim to replace deficit over 48 hours – slowly due to increased risk of cerebral oedema, use reduced volume maintaining fluid doses All fluids must contain 40mmol/L potassium chloride We do NOT add glucose to initial therapy until: → When the BG falls to 12-15 mmol/L, change fluids to 0.45% saline with 5% glucose

Answer 70

1. Cerebral Oedema: unpredictable, occurs more in younger children and newly diagnosed diabetes. 25% mortality. Presentation: Altered consciousness, headache, agitation, high blood pressure, unequal pupils, abnormal posturing Unknown mechanism for development Should treat with 3% saline or 20% mannitol and early referral to intensive care 2. Hypokalaemia: secondary to insulin therapy, this can cause cardiac arrthymias -> cardiac arrest 3. VTE

Answer 71

Hourly paws, accurate fluid input and output, ECG due to potassium, capillary blood GLUCOSE AND KETONES. Weigh child twice daily, U&Es, FBC, VBG, look for signs of cerebral oedema

Answer 72

Explain target HbA1c of 48mmol/mol (6.5%) to minimize long term risk and plasma glucose <7 waking/premeal or <5 if driving

Answer 73

• If suspected T1 – refer to MDT paeds diabetes team to confirm diagnosis and provide immediate care o Offer continuing education program covering insulin therapy, blood glucose monitoring, diet, intercurrent illness and managing hypos • Advise more than 5 capillary blood glucose tests per day Management of hypos → also have an immediate source of fast acting glucose and blood glucose monitoring equipment

Answer 74

1. Multiple daily insulin basal-bolus regimens a. Short acting before meals b. 1 or more intermediate/long acting 2. Continuous sub-cut insulin infusion – insulin pump therapy. 1, 2 or 3 insulin injections per day, short mixed with intermediate-acting - if reccurent hypos that are affecting life eg school

Answer 75

T2DM: Diet, exercise, education, growth monitoring + Metformin occasional Hba1c measurement - 3 monthly? ``` T1DM - more complex: Diet advice, daily monitoring blood sugars, using insulin injections / pumps avoiding, detecting and managing hypos growth and other monitoring ```

Answer 76

Common causes - Environmental understimulation / neglect - Iron deficiency - Cerebral palsy (including hypoxic ischaemic encephalopathy Less common causes - Congenital/inherited conditions - chromosomal rearrangements single gene defects (Duchenne muscular dystrophy, storage disorders, inborn errors of metabolism) - Brain dysplasia, Vitamin D deficiency (delayed motor milestones)

Answer 77

T1DM likely triggered by infection. ``` Rx: SC insulin (basal bonus regime), oral fluid rehydration - encourage her to drink. No drips ``` Not in DKA (as no metabolic acidosis) so does not need IV insulin. MDT: Diabetes nurses - for patient education about condition, and diet and lifestyle changes. inform about injections. DAPHNE - structured teaching for carb counting and correcting nova rapid to this. - diabetes team calculate requirements. Refer to paediatric diabetes team

Answer 78

Autosommal RECESSIVE but since there is a deletion of the other X chromosome, it is expressed!