Upload
audrey-greene
View
227
Download
1
Embed Size (px)
Citation preview
Common Disorders of Growth and Puberty
Atanu Dutta
Queen Mary’s Hospital for Children
Learning Objectives:
• Normal growth
• Common Growth disorders
• Puberty
• Common problems with puberty
Height velocity charts
Growth charts: son of Count Phillip de Montbeillard 1759-1777
Genetic
Nutritional
Hormonal
Environmental
The ICP model of growth
INFANCY
CHILDHOOD
PUBERTY
Height Velocity chart for Boys and Girls in UK
Growth Assessment
Building
evidence
Growth AssessmentThe Six blocks:
• History inc red book
• Clinical examination
• Measurement (Anthropometry)
• Parental height
• Bone age
• Pubertal development
Common things first !!!
• Include a system check:
• Look out for • Asthma• CF• Coeliac• IBD• Psychosocial
• Syndromes are rare
Growth Assessment
• History inc red book
• Clinical examination
• Measurement (Anthropometry)
• Parental height
• Bone age
• Pubertal development
Anthropometry
• Use every opportunity to measure height
• not done often!!
• Calibrated instrument
• Proper positioning
Growth Assessment
• History inc red book
• Clinical examination
• Measurement (Anthropometry)
• Parental height
• Bone age
• Pubertal development
• Using parents height, we can calculate a target range or 95 % tolerance limit for their expected heights of their children
A) Fathers height
B) Mothers height
C) A + B
D) C divided by 2
E) D – 7 cm (Mid parental height)
F) E +/- 8.5 cm = Target centile range
• Using parents height, we can calculate a target range or 95 % tolerance limit for their expected heights of their children
A) Fathers height
B) Mothers height
C) A + B
D) C divided by 2
E) D + 7 cm (Mid parental height)
F) E +/- 10 cm = Target centile range
91st – 9th centile
Growth Assessment
• History inc red book
• Clinical examination
• Measurement (Anthropometry)
• Parental height
• Bone age
• Pubertal development
Bone age
• Compare maturity of epiphyseal centres with standard
• Growth better viewed in relationship to their physical maturity than chronological age
• Possible to predict early vs late developers, final adult stature
• Advanced in girls• Does not make a diagnosis • Adds to the evidence
• Done where indicated
• If concerned, preferable to have BA done
• Info included in ref if possible
+ parental heights
+ growth charts
Growth Assessment
• History inc red book
• Clinical examination
• Measurement (Anthropometry)
• Parental height
• Bone age
• Pubertal development
Change from childhood to adulthood– Hormonal– sexual maturation– physical – body shape/image– psychological– Emotional– experimentation
Puberty
Prader Orchidometer
• Also known as
“Prader balls”• Endocrine rosary
Growth: Clinical problems
Short stature
• “ absolute height which is < - 2 SDS for age, and or a linear growth velocity consistently < - 1 SDS for age”
• Significant SS is ht < - 2.5 SDS and ht velocity < - 1.0 SDS
Short stature – Normal appearance
Short for parents
Looks normal
Normal growth velocity Low growth velocity
Thin Fat
Systemic causes Endocrine
Systemic causes of short stature
• Often delayed skeletal maturation
• Potential to catch up remains if underlying cause treated
• CNS– Developmental
• Cardiovascular– Heart disease
• Respiratory– CF/ Asthma
• GI– Coeliac / IBD
• Renal– CRF/ RTA
• Psychosocial– Emotional deprivation,
anorexia
Psychosocial S S
• Psychosocial and emotional deprivation commonly recognised
• Short stature, skeletal delay
• Older children may experience delayed puberty
• Endocrine dysfunction may be seen
Endocrine causes
• • Hypothyroidism• Isolated GH deficiency• Multiple pituitary deficiency• GH resistant states• Puedohypoparathyroidism• Cushings syndrome• SGA
Non endocrine causes
• Constitutional Growth delay
• Turners syndrome
• Skeletal dysplasias and bone disorders
• Russell Silver Syndrome
• Noonan's syndrome
• Neurofibromatosis
Constitutional Growth delay
CDGP
• After 13 in girls and 14 in boys
• Growth rate and bone age usually 2 SD below
• However, NORMAL growth rate for bone age
• Often a family history of delayed puberty
Constitutional vs Familial
Short stature – Abnormal phenotype
Short for parents
Looks abnormal
Dysmorphic Disproportionate
Systemic causes Endocrine
Skeletal dysplasiaRecognisable syndrome
Variation in Pubertal development
• Delayed Puberty
• Precocious Puberty
• Premature thelarche
• Premature menarche
• Premature adrenarche
• Adolescent gynaecomastia
Delayed Puberty
• Constitutional
• Hypogonadotrophic hypogonadism
• Hypergonadotrophic hypogonadism
Hypogonadotrophic hypogonadism
» Isolated deficiency» MPH deficiency» PWS, LMB» Hypothyroidism» CNS tumours» Anorexia, increased physical activity
Hyper gonadotrophic hypogonadism
»Klinefelters»Anorchia/ Cryptorchidism»Turners»Other forms of primary
testicular/ovarian failure»XX and XY Gonadal dysgenesis
Sexual Precocity
• Complete (True) Precocious
• Incomplete Precocious puberty
Complete Precocious Puberty
– Constitutional– Idiopathic– CNS disorder:– Severe hypothyroidism– Following androgen exposure, CAH
Incomplete Precocious puberty (1)
• MALES»Gonadotrophin secreting tumours»Excessive androgen production»Premature maturation of Leydig
cells/germinal cells
Incomplete Precocious puberty (2)
• Females» Ovarian cysts» Oestrogen secreting neoplasms
• Secondary to exogenous gonadotrophin or exposure to sex steroids
• Mc Cune Albright
Treatment of Sexual precocity
• Depends on– GnRH dependent true or central precocious
puberty» GNRH AGONISTS
– GnRH independent incomplete sexual precocity» Medroxy progesterone acetate» Testolactone» Ketoconazole» Cyprotone acetate
Variation in Pubertal development
• Delayed Puberty
• Precocious Puberty
• Premature thelarche
• Premature menarche
• Premature adrenarche
• Adolescent gynaecomastia
Basic steps in growth assessment
• Measure the height. Assess puberty
• Parental height and calculate MPH
• Compare Childs height with MPH
• Re measure Childs height after period of time
• Calculate present growth velocity
• If abnormally slow or rapid = Investigate
Case scenario (1)
• Paul is 8 yrs old• Always short than his
peers• Healthy but teased• Parents ask
– Cant you give him something to make him grow better ?
• Mother = 166 cm• Father = 169 cm• Mothers parents
• 150 and 160 cm
• Father’s parent• 155 and 160 cm
• Physical exam: N• Bone age = 7.5 years• Testis = 2 mls
• Diagnosis?
Case scenario (2)
• Steven is 14.5 yrs• Hardly grown at all
during the last year• Almost all are taller
than him currently
• Father = 173• Mother = 171• Father had late puberty• Physical exam = N• No pubertal development• BA = 10 yrs• Bloods = N• LHRH shows not yet in
puberty
• Diagnosis?• Any treatment
Thank You