Development Flashcards
How to define obesity in children?
BMI percentile charts are therefore needed to make an accurate assessment.
What test screens newborns for hearing problems?
otoacoustic emission test
At what age can most babies sit without support?
7-8 months
at 12m refer to paediatrician
At what age is it normal for febrile convulsions?
6m -5y
At what age can most infants run?
16m - 2y
At what age can infants ride a tricycle with pedals
3y
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - what condition is this?
Edward’s syndrome
At what age would the average child start to smile?
6 weeks
What is neonatal hypotonia associated with?
Prader-Willi
Neonatal sepsis
SMA
Hypothyroidism
A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate
Pierre-Robin syndrome
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
William’s Syndrome
upslanting palpebral fissures, epicanthic folds, small low-set ears and a round face
Down’s syndrome
Patients with Down’s syndrome are at an increased risk of?
Alzheimer’s
Where should babies who were born prior to 28 weeks gestation receive their first set of immunisations?
should receive their first set of immunisations at hospital due to risk of apnoea.
Hops on one leg?
3-4 years
Pulls to standing?
8-10 months
Squats to pick up ball?
18m
Little or no head lag on being pulled to sit
3m
Walks unsupported?
12-15m
Crawls?
8-10m
newborn baby has an abnormal hearing test at birth?
offer auditory brainstem response test
What can hand preference before 12 months be an indicator of?
Cerebral palsy
What is the Moro reflex?
the Moro reflex, or startle reflex, refers to an involuntary motor response that infants develop shortly after birth. A Moro reflex may involve the infant suddenly splaying their arms and moving their legs before bringing their arms in front of their body.
When does the Moro reflex disappear?
4 months
Autosomal recessive conditions are typically what?
Metabolic
exception - inherited ataxias
Autosomal dominant conditions are typically what?
Structural
exceptions - Gilbert’s, hyperlipidaemia type II
What would you expect to find on cardiac exam of girl with Turner syndrome?
systolic murmur in the left infraclavicular area and under the left scapula due to aortic coarctation
webbed neck, pectus excavatum and short stature, pulmonary stenosis?
Noonan syndrome
autosomal dominant
By what age is autism normally apparent?
3 years
X-linked recessive condition?
there is no male-to-male transmission. Affected males can only have unaffected sons and carrier daughters.
First sign of puberty in boys?
increase in testicular volume
When is neonatal blood spot screening test performed?
between fifth and ninth day of life
Child asks ‘what’ and ‘who’ questions
3 years
Child combines 2 words
2 years
Child asks why when and how questions
4 years
Next step for newborns with a positive heel prick for CF (i.e., raised immunoreactive trypsinogen)?
Sweat test
A baby is born with microcephaly, small eyes, low-set ears, cleft lip and polydactyly
Patau syndrome - trisomy 13
Infant says mama and dada
9 m
A boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis
William’s syndrome
What is the most common cause of childhood hypothyroidism in the United Kingdom?
Autoimmune thyroiditis
Trident hands, short limbs (rhizomelia), lumbar lordosis and midface hypoplasia
Achondroplasia
What is fragile X associated with?
Autism
Child can talk in short sentences (e.g., 3-5 words)
2.5-3 years
Child is vocal of 2-6 words
12-18m
Child responds to their own name?
9-12m
Corrected age of a premature baby?
the age minus the number of weeks he/she was born early from 40 weeks
Features of androgen insensitivity syndrome?
- ‘primary amenorrhoea’
- undescended testes causing groin swellings
- breast development may occur as a result of conversion of testosterone to oestradiol
elfin facies, strabismus, broad forehead and short stature
William’s syndrome
Most common cause of ambiguous genetalia in newborns?
congenital adrenal hyperplasia
What is gastroschisis?
refers to a defect lateral to the umbilicus
What is omphalocele?
refers to a defect in the umbilicus itself
What is gastroschisis associated with?
Gastroschisis is associated with socioeconomic deprivation (maternal age <20, maternal alcohol/tobacco use)
Palmar grasp
5-6m
Draws circle
3 years
Tower of 3-4 blocks
18m
What is the definition of precocious puberty?
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
What is anticipation?
Anticipation in trinucleotide repeat disorders = earlier onset in successive generations
An infant is found to have small eyes and polydactyly
Patau syndrome
A boy is noted to have a webbed neck and pectus excavatum
Noonan syndrome
Management of exomphalos?
gradual repair to prevent respiratory complications.
Management of gastroschisis?
Urgen correction
When is MMR vaccine first given?
12-13 months
Good pincer grip
12m
Preterm birth (<37 weeks) is a key risk factor for?
Neonatal hypoglycaemia
How to support people with Down syndrome who participate in sports that may carry an increased risk of neck dislocation (e.g. trampolining, gymnastics, boxing, diving, rugby and horse riding)
Screen for atlanto-axial instability
A baby is noted to have micrognathia and a cleft palate. He is placed prone due to upper airway obstruction. There is no family history of similar problems
Pierre-Robin syndrome
Squint in newborn persisting for > 8 weeks
Refer
What is Down’s syndrome?
trisomy 21
Features of Down’s syndrome?
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
Brushfield spots in iris
Protruding tongue
Risk factors for Down’s?
↑age mother
prev child with DS
parental consanguinity
Complications of Down’s?
Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
Atlantoaxial instability
Short stature
Subfertility - males infertile due to impaired spermatogenesis, females are sub fertile but ^ problems with pregnancy and labour
Leukaemia (ALL) is more common in children with Down’s
Dementia (Alzheimer’s) is more common in adults with Down’s
Duodenal atresia
Hirschsprung’s disease
Testing for Down’s?
Combined test: 11 - 14 wks. USS nunchal translucency (thickened), maternal bloods: ↑βhCG, ↓PAPPA
If book later, triple/ quadruple test at 14-20 wks
Triple: ↑bHCG, ↓AFP, ↓oestriol
Quadruple: ↑inhibin A, ↑bhCG,↓AFP, ↓oestriol
If risk > 1 in 150, then amniocentesis (later in pregnancy) or CVS (before 15 wks) for karyotyping
Non-invasive prenatal testing: mothers blood for fragments of DNA from fetus.
Management of Down’s?
MDT approach: OT, SALT, physio, dietician, paeds, GP HV’s, ENT, audiologist, opticians, SS’s, educational support, charities
Routine follow up: TFTs 2 yrly, ECHO, audiometry, eye checks
Prognosis of Down’s?
Depends on severity of associated complications
Average life expectancy is 60 yrs
What is Turner’s syndrome?
Female, single X chromosome, deletion of short arm of 1X chromosome. 45XO, 45X
Affects 1 in 2500 females
Features of Turner syndrome?
Short stature
Webbed neck
High arching palate
Short 4th metacarpal
Multiple pigmented naevi
Down sloping eyes, ptosis
Low hairline, low set ears
Broad/shield chest, widely spaced nipples
Spoon shaped nails
Cubitus valgus: arm extended down, palm face inwards, forearm of elbow exaggerated
Underdeveloped ovaries, ↓function, infertility, 1° amenorrhoea
Complications of Turner syndrome?
Recurrent OM/UTI Coarctation of aorta Bicuspid aortic valve Hypothyroid Horseshoe kidneys HTN, DM Obesity Osteoporosis LD Cystic hygroma Lymphoedema in neonates AI disease, AI thyroiditis, CD
Diagnosis of Turner syndrome?
Hypergonadotropic hypogonadism
USS showing streak (fibrous gonads + small uterus)
Management of Turner syndrome?
Help with Sx
GH: prevent short stature
Oestrogen + progesterone > establish 2° female characteristics, regulate menstrual cycle + prevent osteoporosis
Fertility Tx
Monitoring for associated condition and complications - HTN, hypothyroidism
What is Klinefelter’s syndrome?
Extra copy of X, in males, sex chromosome nondisjunction during maternal/paternal meiotic dysfunction
47XXY
Can even have more X chromosomes - 48 XXXY or 49 XXXXY
Features of Klinefelter’s syndrome?
Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition:
Taller height, ↓upper to lower extremity ratio Wider hips Gynaecomastia Weaker muscles Small testicles Reduced libido Shyness Infertility ↓facial/body hair Subtle learning difficulties (particularly affecting speech and language, delayed speech/language)
Complications of Klinefelter’s syndrome?
Psychiatric disorders Autism Chronic bronchitis, emphysema Leg ulcers DM Germ cell tumour, breast Ca, NH lymphoma
Diagnosis of Klinefelter’s syndrome?
↓testosterone
Hypergonadotropic hypogonadism
Karyotyping
Management of Klinefelter’s syndrome?
Testosterone replacement
Breast tissue removal
Counselling
IVF
MDT - SALT, OT, PT, educational support
Summary of DiGeorge syndrome?
22q11.2 deletion, failure to develop 3rd and 4th pharyngeal pouches
Common features include congenital heart disease (e.g. tetralogy of Fallot), learning difficulties, hypocalcaemia, recurrent viral/fungal diseases, cleft palate
↓PTH, ↓Ca
↓T cell no + function
CATCH-22 - Cardiac abnormalities, Abnormal face, Thymic aplasia, Clef palate, Hypocalcaemia/PTH (seizure, tetany, osteoporosis)
Management - MDT approach Immune system support: blood transfusion, vaccines, Abx for infection Thymus transplantation Cardiac surgery Vit D, ca supplements
Summary of Patau’s syndrome?
Trisomy 13
Not genetically inherited, related to ^ maternal age
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Many don’t survive 1st few wks of life, die IU/ still born
LD
CHD, septal defects
Curtis aplasia = areas of missing skin
Amniocentesis/CVS: ↓PPA, serum B-hCG, uE3, AFP, quadruple screen
What is Edward’s syndrome?
Trisomy 18
Linked to ↑maternal age. M>F.
Up to 50% die within 1st wk.
Features of Edward’s syndrome?
Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers Undescended testes Hypotonia Ocular hypertelorism, abnormal retinal pigment
FTT/ IUGR
Severe LD
ASD, VSD, PDA
Omphalocele, intestinal malrotation Meckel’s
Testing for Edward’s syndrome?
Combined test: Unchanged inhibin A. ↓PAPP-A, BhCG, uE3, AFP
USS: cardiac, choroid plexus cysts, NTD, abnormal hand + feet position, exomphalos, growth restriction, single umbilical a, polyhydramnios, small placenta
What is Fragile X syndrome?
Anticipation phenomenon.
X-linked. AR
Defect in 5’ untranslated region of FMR1 (fragile mental retardation 1) > trinucleotide expansion > abnormal length > ↑methylation > promoter region methylation > ↓FMR protein synthesis
Mutation during oogenesis
Features of Fragile X syndrome?
delay in speech and language development Intellectual disability Long, narrow face Large ears Large testicles after puberty Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures
Males always affected > Macroorchidism
Females vary in degree they’re affected > ovarian insuff, early menopause
Complications of Fragile X syndrome?
Mitral valve prolapse
Parkinsonism
STM loss
Seizures in childhood, resolves in adulthood
Carrier: aggregation of mRNA binding protein, toxic effects to cell function, neurodegen.
Diagnosis of Fragile X syndrome?
CVS or amnio
Analysis of number of CGG repeats using restriction endonuclease digestion + Southern blot analysis
Male: IQ 20-60
Management of Fragile X syndrome?
ADHD Tx see MH SSRIs Anticonvulsants Oestrogen replacement therapy Counselling, psychotherapy, SALT
What is Noonan syndrome?
Majority AD
‘male Turner’s’
defect on Chr12, normal karyotype
Features of Noonan syndrome?
Webbed neck
Widely spaced nipples
Ptosis, wide spaced, down-slanting eyes, vivid blue or blue-green
Inverted triangular face
Low set ears
Flat nasal bridge
Short stature
Cryptorchidism
Sparse eyebrows/ lashes.
Complications of Noonan’s syndrome?
Cardiac - Pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
Infertility due to cryptorchidism. Fertility normal in women
LD
Lymphoedema
^ risk of leukaemia and neuroblastoma
Coagulation problems - factor XI deficiency
Diagnosis of Noonan’s syndrome?
ECG
ECHO
FBC: anaemia, thrombocytopenia
PT, aPTT, bleeding time prolonged
Molecular genetic testing
Pigment abnormalities: café au lait, lentigines, nevi, keratosis
Treatment of Noonan’s syndrome?
Surgery of undescended testes
GH Tx for short stature, somatropin
MDT
Often patient’s require corrective heart surgery
Summary of Pierre-Robin syndrome?
SOX9 mutation
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Teeth present at birth
Recurrent ear infections
Heart murmur
Pul HTN
Management - Surgery
Airway support
MDT
What is Prader-Willi syndrome?
Phenotype depends whether deletion on gene inherited from mother or father
Absence of PW gene on Chr15
deletion of this portion of the chromosome, or when both copies of chromosome 15 are inherited from the mother.
Prader-Willi syndrome if gene deleted from father
Angelman syndrome if gene deleted from mother
Imprinting
Features of Prader-Willi syndrome?
hypotonia during infancy
short stature
Constant insatiable hunger that leads to obesity
hypogonadism and infertility
learning difficulties
behavioural problems in adolescence
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
Management of Prader-Willi syndrome?
Dietician - limiting access to food under guidance to control weight - locking in cupboards, locks on fridge
Lower than normal calorie intake, due to lower activity levels from poor muscle strength and tone
Education of family, schools, carers
GH - improve muscle development and body composition
MDT - dieticians, education support, social workers, psychologists/psychiatrists, PT, OT
What is Angelman syndrome?
caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother
caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.
Features of Angelman syndrome?
Happy demeanour
Fascination with water
Widely spaced teeth
Hand flapping Ataxia, toe-walking Jerky-tremulous limbs Hypopigmentation Microcephaly Maxillary hypoplasia Large mouth Protruding tongue Prominent nose
Management of Angelman syndrome?
MDT - parental education, SS’s, educational support, PT, OT, psychology, CAHMS, AED’s
What is William’s syndrome?
Microdeletion on Chr7
Result of random deletion, rather than inherited
Features of William’s syndrome?
elfin-like facies Starburst eyes - star pattern on iris characteristic like affect - very friendly and social Wide mouth, big smile learning difficulties short stature transient neonatal hypercalcaemia supravalvular aortic stenosis ADHD
Diagnosis of William’s syndrome?
FISH studies (fluorescence in situ hybridization)
Echo: supravalvular aortic stenosis, hourglass aorta, LVH
USS: urinary tract abnormalities, eg bladder diverticular, renal aplasia
Transient neonatal ↑Ca, irritability, ↓appetite, constipation, hypotonia.
Management of William’s syndrome?
Early intervention education: physical language, OT
Associated condition treatment: eg aortic stenosis repair, HTN
Low calcium diet, avoid calcium and Vit D supplements
Summary of Cri du chat?
Chromosome 5p deletion syndrome
Characteristic cat cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Physical signs less prominent with age
FISH, molecular genetic tests
Early intervention, education, language, OT, heart defect repair
Summary of fetal alcohol syndrome?
Prolonged alcohol ingestion in pregnancy
Baby may show symptoms of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors
short palpebral fissure thin vermillion border/hypoplastic upper lip smooth/absent filtrum learning difficulties microcephaly growth retardation epicanthic folds cardiac malformations
Summary of short stature in children?
<2nd centile/3 below mid-parenteral ht, or growth decel
Boys (Dad cm + mum + 13) / 2
Girls (father + mothers – 13) / 2
Infants: IUGR, FTT
Adolescents: constitutional delay, abnormal delay
Endocrine (↑BW): hypothyroid, GH def, Cushing’s adrenal hyperplasia.
Nutritional: short + under-wt wt more sensitive than growth.
Emotional abuse suppress HPA
Chr: Turner’s, Prader-Willi, Noonan’s, Down’s
Disproportionate: scoliosis or skeletal dysplasia
GH def: milestones delay hypoglycaemia/poor muscle development, short stature with delayed bone age, often puberty normal
Hypothyroidism: prolonged neonatal jaundice, FTT, delayed MS, sleepy/quiet baby, large tongue, hypotonia
Familial: most short kids have short parents, fall in target range for mid-parental height, normal parameters + bone age for chronological age.
Use growth charts, assess puberty, bone age, delayed growth (look for GH def, hypothyroid, constitutional, chronic disease), advanced (precocious puberty, hyperthyroid, obesity), equivalent (IUGR, familial)
GH injection - deficiency, turner/noonan, Prader-Willi, CKD, IUGR,
What is achondroplasia?
most common cause of disproportionate short stature (dwarfism). It is a type of skeletal dysplasia.
fibroblast growth factor receptor 3 (FGFR3), is on chromosome 4 > sporadic mutation or inheritance (AD)
homozygous - fatal in neonatal. so pt’s have one normal gene and one abnormal
causes abnormal function of epiphyseal plates, restricting bone growth in length
Features of achondroplasia?
disproportionate short stature. The average height is around 4 feet
short limbs
spine less affected, normal trunk length
lumbar lordosis
short digits - trident hands
bow legs (genu varum)
disproportionate skull - flattened mid-face and nasal bridge
foramen magnum stenosis
Recurrent otitis media, due to cranial abnormalities
Kyphoscoliosis
Spinal stenosis
Obstructive sleep apnoea
Obesity
Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus
Management of achondroplasia?
MDT - paediatricians, specialist nurses, PT, OT, dieticians, orthopaedic surgeons, ENT surgeons, geneticists
leg lengthening surgery
Summary of pituitary dwarfism?
GH def in childhood. Can be accompanied by ↓secretion of other pit hormones.
Caused by: pit or hypothalamic tumours, infections (meningitis, syphilis), pit infarction, vascular malformations, head trauma
Skeleton fails to grow, 120-130cm in height, with normal proportions
Recombinant GH therapy allows some to catch up
What is Laron dwarfism?
Mimics GH def.
Mutation in GH receptor, unresponsive
Retardation of growth, same short stature + appearance as those who lack GH
GH ↑ + IGF-1 + IGF BindingProtein3 are ↓.
Treated with recombinant IGF-1
Summary of tall stature in children?
Most common familial
Genetic: Klinefelter’s, Marfan’s
Endocrine: GH XS (gigantism), hyperthyroid, congen adrenal hyperplasia
Precocious puberty
Tall stature at birth, hyperinsulinism, Beckwith synd
Obesity advances puberty so ↓ final height
Calculate BMI
Normal puberty?
Puberty starts age 8 – 14 in girls and 9 – 15 in boys. It takes about 4 years from start to finish. Girls have their pubertal growth spurt earlier in puberty than boys.
Girls - breast buds, then pubic hair, finally menstrual periods after 2 years from start of puberty
Boys - enlargement of testicles, then penis, gradual darkening of scrotum, development of pubic hair, deepening of voice
Tanner staging
Causes of delayed puberty?
Hypogonadotropic hypogonadism - deficiency of LH and FSH
Hypergonadotrophic hypogonadism - lack of response to LH and FSH by gonads
Constitutional: temp, not pathologic, onset naturally late, genetic component
What is hypogonadotrophic hypogonadism?
Deficiency of LH and FSH, leading to deficiency of testosterone and oestrogen
Caused by:
- abnormal functioning of hypothalamus or pituitary gland:
Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer
Growth hormone deficiency
Hypothyroidism
Hyperprolactinaemia (high prolactin)
Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
Excessive exercise or dieting can delay the onset of menstruation in girls
Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
Kallman syndrome
What is hypergonadotrophic hypogonadism?
Gonads fail to respond to gonadotrophin, no negative feedback so AP produces ^ amounts of LH and FSH
Result of abnormal functioning. Due to:
Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
Congenital absence of the testes or ovaries
Kleinfelter’s Syndrome (XXY)
Turner’s Syndrome (XO)
Complications of delayed puberty?
Permanent infertility if puberty never begins/fails to complete, sexual maturity never reached
Delayed puberty short stature: Turner’s, Prader-Willi, Noonan’s
Delayed puberty normal stature: PCOS, androgen insensitivity, Kallman’s Klinefelter’s
Investigations for delayed puberty?
Investigations begin at 13 in girl or 14 in boy, or some evidence of puberty but no progression over 2 years
underlying medical conditions > FBC (ferritin, anaemia), U&E for CKD, anti-TTG or anti-EMA for coeliac
↓test, oestrogen in ↓gonad activity,
early morning FSH and LH > ↓FSH, LH in supressed pit., high in hypergonadotrophic
TFTs, PRL.
GH testing > ILGF1
Karyotype. > Klinefelter’s (XXY) or Turners (XO)
Pelvic USS: presence of ovaries/ uterus
X-ray of wrist - bone age, constitutional delay
MRI brain - pituitary pathology, assess olfactory bulbs in Kallmans
Tanner scale
Management of delayed puberty?
HRT
Infertility treatments
Constitutional delay - require reassurance and observation
What is precocious puberty?
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females
( thelarche (the first stage of breast development)
adrenarche (the first stage of pubic hair development) )
Classified into:
- gonadotrophin dependent (central, true) - due to premature activation of HPG axis, LH + FSH raised
- gonadotrophin independent (pseudo, false) - due to excess sex hormones, FSH & LH low
Causes of precocious puberty?
Central, gonadotropin dependent - Hypothal/ pit tumour, cyst, infection, radiation, brain damage (impairs neg feedback), idiopathic, familial, hyperthyroid, obesity
Peripheral, gonadotrophin independent - overproduction of sex hormones, FSH, LSH ↓. Ovarian/ testicular cyst/ tumour, genetic, thyroid/ adrenal gland, exogenous hormones from meds, creams
Features of precocious puberty?
Progress through Tanner scale before 95% other children at same age
Early sexual maturation
Isolated pubarche > adrenarche usually cause
Isolated thelarche > often benign
Dissonance: seq pathological. Hirsutism/ Clitoromegaly in girls, enlarged penis in boys
Males - uncommon and usually has an organic cause
Bilat testicular enlargement: hypergonadotropic
Unilat testicular large: tumour in that testicle
Small testes = adrenal
Female: idiopathic or familial + follows normal sequence of puberty
Organic causes - rare, associated with rapid onset, neurological Sx, e.g., McCune Albright syndrome
Investigations for precocious puberty?
MRI: structural abnormalities
USS: gonads
X-ray: estimates bone maturation
Lab results: gonadotropin hormone levels, Early morning testosterone. GnRH stimulation test to determine central vs peripheral > LH/FSH rise in central not peripheral.
Physical exam: assess growth compared to age, Tanner scale
Tanner scale?
1 - No pubic hair, small testes + penis, flat chest
2 - Pubic hair, testes enlarge + breast buds
3 - Pubic hair coarser, penis enlarge, breast mounds
4 - Pubic hair cover pubic area, penis widens, breast enlargement
5 - Pubic hair extends to inner thigh, penis, testes enlarge to inner thigh + breasts take on adult contour
Management of precocious puberty?
Hormone therapy: GnRH analogues > suppress HPA, ↓release of LH, FSH, slows puberty
Surgical removal of tumour/cyst from ovaries/testicles
What is congenital adrenal hyperplasia?
congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproduction of androgens from birth.
inherited in an autosomal recessive pattern.
In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.
What is congenital adrenal hyperplasia?
a congenital deficiency of the 21-hydroxylase enzyme
causes underproduction of cortisol and aldosterone and overproduction of androgens from birth
autosomal recessive pattern
In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.
Pathophysiology of congenital adrenal hyperplasia?
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol.
Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme.
In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead.
The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
Presentation of severe cases of congenital adrenal hyperplasia?
Female patients with CAH usually presents at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels.
Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia. Causing S+S of: poor feeding, vomiting, dehydration and arrhythmias
Adrenal crisis if low aldosterone
Infertility
Presentation of mild cases of congenital adrenal hyperplasia?
Present during childhood or after puberty. Sx relate to high androgen levels
Females: tall for age, facial hair, absent periods, deep voice, early puberty
Males: tall for age, deep voice, large penis, small testicles, early puberty
Skin hyperpigmentation - occurs because the AP gland responds to low levels of cortisol by producing increasing amounts of ACTH, causing adrenal hyperplasia. A byproduct of ACTH is melanocyte stimulating hormone, which stimulates melanin production.
Management of congenital adrenal hyperplasia?
Specialist paediatric endocrinologists
Cortisol replacement - hydrocortisone
Aldosterone replacement - fludrocortisone
Female pt’s with ‘virilised’ genitals may require corrective surgery
What is constitutional delay of growth and puberty?
Temp delay in skeletal growth, height + puberty in children. Eventual adult height normal
Often familial, normal variation
↓ GH > ↓ IGF-1/ somatomedin C (prevents cell death), ↓ cell metabolism, division, differentiation in body.
↓GnRH > ↓LH, FSH > ↓ oest, test > delayed development of sex organs + 2° sexual characteristics.
Normal size at birth
Short preadolescent stature, growth rate decline, may fall to 2nd percentile, growth picks up again, matches peers around 4. Growth spurt later than normal + can catch up with peers.
Investigations - ↓LH/FSH
Growth chart
Hand XR: delayed bone development. At least 1 yr < child’s age. Delayed Tanner scale staging
Normal TFT, 24 hr urine cortisol, stimulated GH test shows not a tumour.
Management - exclude pathology, can trigger puberty if pt. desires, provide reassurance regarding eventual normal growth + development
What is Kallmann syndrome?
cause of delayed puberty secondary to hypogonadotropic hypogonadism
X-linked recessive trait
thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus, and defect in migration of neurons from olfactory placode to cribriform plate forming olfactory bulb
Features of Kallmann syndrome?
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
Management of Kallmann syndrome?
Hormone therapy: stimulate puberty, development of 2° sex characteristics
Ca, vit D: osteopenia
Infertility treatments
What is cleft lip/palate?
affect around 1 in every 1,000 babies
can be isolated lip/palate or combined
cleft lip results from failure of the fronto-nasal and maxillary processes to fuse
cleft palate results from failure of the palatine processes and the nasal septum to fuse
polygenic inheritance
maternal antiepileptic use increases risk, also IU hypoxia, pesticides, folate def.
neurodevelopment conditions - Patau, Edward, Pierre Robin
Problems with cleft lip/palate?
Feeding - orthodontic devices may be helpful
Speech - dysphonia (hyper nasal, air leaks to nasal cavity), dysarthria (speech difficulty, distorted word structure)
^ risk of otitis media for cleft palate babies
nasal cavity infection as food trapped in nasal cavity
Diagnosis of cleft lip/palate?
Prenatal USS: integrity of nares, upper lip, hard + soft palate.
MRI: evaluation of associated extra/ intracranial abnormalities
Management of cleft lip/palate?
Cleft lip: repair 1st wk of life – 3mnths
Cleft palate: 6-12 mnth
Folate in pregnancy
MDT > plastic, maxillofacial and ENT surgeons, dentists, SALT/ dietician, psychologist, GP
What is failure to thrive?
poor physical growth and development in a child
Sub optimal WG in infants/ toddlers
faltering growth in children as a fall in weight across:
One or more centile spaces if their birthweight was below the 9th centile
Two or more centile spaces if their birthweight was between the 9th and 91st centile
Three or more centile spaces if their birthweight was above the 91st centile
Causes of failure to thrive?
Inadequate nutritional intake - Maternal malabsorption if breastfeeding Iron deficiency anaemia Family or parental problems Neglect Availability of food (i.e. poverty)
Difficulty feeding - poor suck (e.g., CP), cleft lip or palate, genetic conditions with abnormal facial structure, pyloric stenosis
Malabsorption - CF, coeliac disease, cows milk intolerance, chronic diarrhoea, IBD
Increased energy requirements - hyperthyroidism, chronic disease (congenital heart disease and CF), malignancy, chronic infections (HIV/immunodeficiency)
Inability to process nutrition - inborn errors of metabolism, T1DM
Assessment of failure to thrive?
Pregnancy, birth, developmental and social history
Feeding or eating history
Observe feeding
Mums physical and mental health
Parent-child interactions
Height, weight and BMI (if older than 2 years) and plotting these on a growth chart
Calculate the mid-parental height centile
Investigations for failure to thrive?
Urine dipstick, for urinary tract infection
Coeliac screen (anti-TTG or anti-EMA antibodies). Think coeliac if starts when weaning.
Focused investigations if suspect underlying diagnosis, such as cystic fibrosis or pyloric stenosis.
Management of failure to thrive?
depends on the cause
may involve input from the multidisciplinary team
regular reviews to monitor weight gain
support if difficulty breast feeding > midwives, health visitors, peers groups and “lactation consultants”, supplementing with formula milk
if inadequate nutrition > regular structured mealtimes and snacks, reduce milk consumption to improve appetite for other foods, review by a dietician, additional energy dense foods to boost calories, nutritional supplements drinks
if other measures fail > enteral tube feeding.
What is cow’s milk protein allergy?
typically affecting infants and young children under 3 years.
It involves hypersensitivity to the protein in cow’s milk
may be IgE mediated, in which case there is a rapid reaction to cow’s milk, occurring within 2 hours of ingestion.
can also be non-IgE medicated, with reactions occurring slowly over several days.
more common in formula fed babies and those with a personal or family history of other atopic conditions.
Presentation of cow’s milk protein allergy?
usually presents before 1 year of age
may become apparent when weaned from breast milk to formula milk or food containing milk
can present in breastfed babies when the mother is consuming dairy products.
Gastrointestinal symptoms: Bloating and wind, Abdominal pain, Diarrhoea, Vomiting
General allergic symptoms in response to the cow’s milk protein: Urticarial rash (hives), Angio-oedema (facial swelling), Cough or wheeze, Sneezing, Watery eyes, Eczema
Rarely in severe cases anaphylaxis can occur.
Management of cow’s milk protein allergy?
Clinical diagnosis from Hx and O/E
Skin prick testing can help support diagnosis, not always necessary
Avoiding cow’s milk should resolve Sx > breast feeding mother’s avoiding dairy products, replace formula with specialised hydrolysed formulas designed for cow’s milk allergy
Hydrolysed formulas - contain cow’s milk but proteins been broken down so no longer trigger immune response. In severe cases infants may require elemental formulas made of basic amino acids (e.g., Neocate)
Most children will outgrow cow’s milk protein allergy by age 3, often earlier.
Every 6 months or so, infants can be tried on the first step of the milk ladder (e.g. malted milk biscuits) and then slowly progress up the ladder until they develop symptoms. Gradually be able to progress towards a normal diet containing milk.
Cow’s Milk Intolerance versus Cow’s Milk Allergy?
Cow’s milk intolerance presents with the same gastrointestinal symptoms as cow’s milk allergy (bloating, wind, diarrhoea and vomiting), however it does not give the allergic features (rash, angio-oedema, sneezing and coughing).
Infants with cow’s milk intolerance will grow out of it by 2 – 3 years. They can be fed with breast milk, hydrolysed formulas and weaned to foods not containing cow’s milk. After one year of age they can be started on the milk ladder.
What is intraventricular haemorrhage of newborn?
bleeding inside or around the ventricles in the brain
Preterm, unsupported BVs in germinal matrix (where neuronal cells originate), highly vascularised + unstable BP
Caused by: Birth trauma, cellular hypoxia, hypotension, hypercapnia, delicate neonatal CNS
4 grades - 4 being most severe and causing long-term brain injury
Sx of intraventricular haemorrhage of newborn?
Majority 1st 72hrs after birth.
Bulging fontanelles
Cerebral instability
Altered consciousness
Hypotonia
Abnormal eye movement + position
Apnoea
Bradycardia
Weak suck
High-pitched cry
Anaemia
Complications of intraventricular haemorrhage of newborn?
Blood may clot + occlude CSF flow > hydrocephalus. Resp distress CP Low IQ Seizures
Diagnosis of intraventricular haemorrhage of newborn?
Hx and exam
USS
Low Hb
Management of intraventricular haemorrhage of newborn?
Delayed cord clamping can ↓ risk
Preterm delivery (24-34 wks) - corticosteroids
Supportive - fluids and O2
↑ICP > shunting
Resp support
What is periventricular leukomalacia?
a softening of white brain tissue near the ventricles due to lack of blood and oxygen
Causes of periventricular leukomalacia?
Intraventricular haemorrhage
Uterine infections
PROM
Premature
LBW
S+S of periventricular leukomalacia?
start to show at around one to two years old
degree depends on how much brain tissue damaged
most common symptom is cerebral palsy, a condition that affects coordination and movement
may have visual problems (nystagmus, cross eyes, strabismus, ROP) and/or LD
missed milestones
Spastic diplegia: muscles tight, unable to bend/flex
Diagnosis and management of periventricular leukomalacia?
USS: echodense, may resolve or develop cystic lesions
CT/MRI
Gen IU, can occur after birth. Most 26-34 wks
Behav, speech, physical therapy, visual support
What is SIDS?
Sudden infant death syndrome is the commonest cause of death in the first year of life. It is most common at 3 months of age.
Risk factors for SIDS?
RFs additive
Major RF: sleeping prone, soft mattress, parental smoking, alcohol in preg, prem, LBW, bed sharing, head covering, hyperthermia (over-wrapping),
M>F, multiple births, social classes IV + V, maternal drug use, winter, viral infection, single parent, teen mother, little prenatal/ antenatal care
Management of SIDS?
Careful evaluation of death to rule out other causes of death
Sibling screened for sepsis + inborn error of metabolism
Lullaby trust
Care of next infant (CONI) - extra support and home visits, resuscitation training and access to equipment such as movement monitors that alarm if the baby stops breathing for a prolonged period.
Preventative:
Protective: BF, room sharing, dummies, immunisation
Advice: don’t smoke in same room, avoid bed sharing, avoid sleeping with baby on sofa
Cot: don’t use pillow/ duvets, on back, alone in crib, tuck in blanket below shoulders to prevent covering head
What is strabismus?
Squint: eyes look in different directions causing misalignment of visual axis
Normal variant until 3mnths
RF: prematurity
Causes of strabismus?
1 eye: retinoblastoma, cataract retinopathy of prematurity
Concomitant: failure in developing binocular vision, due to refractive error in 1 or both eyes. Imbalance in extraocular muscles.
Divergent (eyes turn out), convergent (eyes turn in, most common. )
Paralytic: due to extra-ocular muscle paralysis
Features of strabismus?
Diplopia: both eyes are open, may be absent in children with strabismus
Eye misalignment
Abnormal eye movements
Complications of strabismus?
Uncorrected may lead to amblyopia (brain fails to fully process inputs from 1 eye + over time favours other eye)
Investigations of strabismus?
Corneal light reflex: see if light reflects symmetrically
Cover eye test: child focus object, cover 1 eye, observe movement of uncovered eye, cover other eye + repeat. Strabismus if fellow eye makes re-fixation movement
Prism + cover test: if prism neutralises strabismus, no-fixation movement of deviating eye. Described according to quality e.g. esotropia or hypertropia + size. Used to measure angle of strabismus
Management of strabismus?
Referral to ophthalmology if >3 mnths. May require eye patches to prevent amblyopia
Contact lenses or glasses
What is 5 alpha reductase deficiency?
a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes)
AR sex-limited genetic mutation in SRD5A2 gene. Only affects males.
Defective 5αreductase, ↓testosterone to dihydrotestosterone, impaired 2° sexual characteristics development, internal male sex organs but external genitalia follow female path of development.
Features of 5 alpha reductase deficiency?
Prepuberty: phallus doesn’t fully elongate, resembles something between clitoris + penis. Bifid scrotum (scrotum remains split), hypospadias, ambiguous genitalia.
Puberty: ↑testosterone, scrotum + phallus grow larger, male appearance, deepening of voice, muscle growth, facial, body hair.
Infertility
Inflammation
Infection of gonads due to malformation
Investigations for 5 alpha reductase deficiency?
Genetic testing: karyotyping genetically male, confirm enzyme def
Normal serum testosterone level, ↓dihydrotestosterone ↑testosterone : to dihydrotestosterone ratio
Treatment of 5 alpha reductase deficiency?
HRT: male/female sex hormones according to gender role adopted by individual
Surgical procedures to help restore external genitalia to nonambiguous
Assisted reproduction: internal genitalia don’t produce ova, may produce sperm.
What is androgen insensitivity syndrome?
an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype
testes produce androgens, can’t exert action because defect in androgen receptor
Features of androgen insensitivity syndrome?
‘primary amennorhoea’
undescended testes causing groin swellings
breast development may occur as a result of conversion of testosterone to oestradiol
Diagnosis of androgen insensitivity syndrome?
buccal smear or chromosomal analysis to reveal 46XY genotype
USS: absence of uterus, ovaries, cryptorchidism
↑testosterone, dihydrotestosterone
Genetic testing: genetically male
Management of androgen insensitivity syndrome?
counselling - raise child as female
HRT: testosterone/ dihydrotestosterone if male role adopted, oestrogen if female.
Surgery: surgical removal of testes (esp in cryptorchidism) to ↓ cancer risk
External genitalia correction
