Common Disorders of Growth and Puberty Atanu Dutta Queen Mary’s Hospital for Children.

transcript

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

• Parental height

• Bone age

Anthropometry

• Use every opportunity to measure height

• not done often!!

• Calibrated instrument

• Proper positioning

Growth Assessment

• Parental height

• Bone age

• 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

• Parental height

• Bone age

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

• Parental height

• Bone age

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

• 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

Common Disorders of Growth and Puberty Atanu Dutta Queen Mary’s Hospital for Children.

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