Growth and Puberty

Question 1

Expected weight gain in children

Answer 1

0-3 months: 180g/week
3-6 months: 120g/week
6-9 months: 80g/week
9-12 months: 70g/week
<10% weight loss in first weeks which recovers

Question 2

dDx faltering growth

Answer 2

Inability to feed
Malabsoprtion
Chronic disease
Syndromic
Child abuse/malnutrition
Diabetes

Question 3

dDx the short child

Answer 3

familial short stature
endocrine
nutrition
malabsoption
chronic illness
steroid excess
syndromic
constitutional delay

Question 4

Features constitutional delay

Answer 4

Variation of normal with a delay in puberty onset
Usually a family history with normal growth achieved by adulthood
Normal bone age on Xray

Question 5

Ix short stature

Answer 5

Height and weight growth chart

wrist xray and bone age

Question 6

Causes hypothyroid

Answer 6

Usually autoimmune thyroiditis, growth failure, excess weight gain, rapid catch up growth associated with rapid puberty and overall decreased final height, raised TSH

Question 7

Causes GH deficiency

Answer 7

congenital midfacial/midline defects, craniopharyngioma, hypothalamic tumour, trauma, Laron syndrome (defective GH receptors)

Question 8

Syndromes with short stature

Answer 8

turners syndrome, down’s syndrome, russell-silver, praa-willi, cystic fibrosis, williams, McCne-Albright

Question 9

Features normal head growth

Answer 9

Largest proportion of head growth occurs before age 2 with complete adult head size achieved by age 5. Fontanelles close at: posterior by 8 weeks; anterior by 12-18 months

Question 10

Features microcephaly

Answer 10

Head circumference below the second decile
May be developmentally normal .e.g. Familial
Pathological: congenital infection, autosomal recessive condition associated with developmental delay, acquired form insult to the developing brain, fetal alcohol syndrome, patau

Question 11

Features macrocephaly

Answer 11

Head circumference above to 98th decile
May be tall stature or familial
Sign of raised ICP: chronic subdural haemorrhage, turmou, neurofibromatosis
Cerebral gigantism
CNS storage disorder

Question 12

Imaging in abnormal head growth

Answer 12

Should be investigated by: US if fontanelles are open; MRI if fontanelles are closed

Question 13

Features assymetrical head growth

Answer 13

Can result from growth imaba;lance although should remain on same head circumference centile
Occipital plagiocephaly (flattening of the back of the head) commonly due to sleeping/lying position, and resolves when child becomes mobile. 
Plagiocephaly is seen in children with hypotonia/immobility .e.g. SMA due to lack of posturing changes
Preterm infants develop flat sides due to lying incubators: may be improved with soft surfaces and changing head positioning regularly

Question 14

Features carniosynostosis

Answer 14

Skull bone suture start to fuse during infancy, ad complete fuse by childhood
Leads to distinctive head shape
Typically affects sagittal suture causing a long narrow skull
Generalised craniosynostosis is a feature of crouzon syndrome : requires craniofacial reconstruction prevent visual loss and cerebral damage
Fuse suture felt as a palpable ridge
Diagnosis confirmed by Xray or CT

Question 15

dDx premature sexual development

Answer 15

True precocious puberty
Pseudoprecocious puberty
Thelarche
Padrenerche

Question 16

Features True precocious puberty

Answer 16

Premature activation of the HPA axis (gonadotropic dependant)
Females very sensitive to gonadotropins so commonly affected by precocious puberty
US of ovaries shows progress of puberty and uterine change from infantile tubular shape to pear shape and thickening of endometrium
Examination of tests bilateral enlargement >4mm suggests true PP

Question 17

Mx true precocious puberty

Answer 17

In females delay of menarch by GnRH analogues

Question 18

Features pseudoprecocious puberty

Answer 18

Secretion of estrogen and testosterone by tumor of adrenal gland, testes, or ovaries
Abnormal dissonant sequence
Pathological causes are rare: congenital adrenal hyperplasia/adrenal tumour
Present with axillary hair, odor and acne before breast development
Testes are insensitive to gonadotropins hence true precocious puberty is uncommon.
Prepubertal testes suggests pseudo PP
Unilateral enlargement of the testes suggests gonadal tumors
Use of androgen/oestrogen production inhibitors

Question 19

Features thelarche

Answer 19

Preamture isolated breast development
Usually females between 6 months and 2 years
Does not progress past tanner stage 3 
Usually self limiting]
Absence of other pubertal features

Question 20

Features padrenerche

Answer 20

Premature pubic hair development, without other signs of sexual development
Due to accentuation of normal maturation of androgen production by the adrenal gland
6-8 years of age
More common in asian and black children
Associated with increase in growth rate and bone age (12-18 months advance of actual age)
Usually self limiting
Virilization suggests nonclassical congenital adrenal hyperplasia or an adrenal tumour
Girls with premature pubarche are at risk of PCOS

Question 21

dDx delayed sexual development

Answer 21

Constitutional delay
Systemic disease
HPA disorder
Acquired hypothyroid
Chromocomal abnormalities
Androgen insensitivity syndreme

Question 22

Features androgen insensitivity syndrome

Answer 22

LH high, testosterone normal
X linked recessive condition
End organ resistance to testosterone
Genetically male children have a female phenotype
Primary amenorrhoea
Undescended testes causing groin swelling
Breast development may occur (conversion of testosterone to oestradiol)
46XY genotype

Question 23

Mx Androgen insensitivity syndrome

Answer 23

Counselling and raise child as female
Bilateral orchiectomy to reduce testicular cancer
Oestrogen therapy

Question 24

Features Kallmans

Answer 24

Hypogonadotropic hypogonadism: LH/FSH/testosterone inappropriately low
Associated with anosmia
Usually X linked recessive
Failure of migration of GnRH secreting neurons
Association with cleft palate/lip, visual/hearing defects