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

The ICP model of growth PUBERTY CHILDHOOD INFANCY

Height Velocity chart for Boys and Girls in UK

Growth Assessment Building evidence

Growth Assessment The 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 Fat Thin Endocrine Systemic causes

Systemic causes of short stature CNS Developmental Cardiovascular Heart disease Respiratory CF/ Asthma GI Coeliac / IBD Renal CRF/ RTA Psychosocial Emotional deprivation, anorexia Often delayed skeletal maturation Potential to catch up remains if underlying cause treated

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 Recognisable syndrome Skeletal dysplasia Endocrine Systemic causes

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 Father’s parent 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

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