Endocrine disorders Flashcards
(43 cards)
In what 3 circumstances do individual children need further assessment of growth
1) Weight/ height/ BMI below 0.4th centile, unless already investigated
2) Height centile > 3 centile spaces below mid-parental centile
3) A drop in height centile position of > 2 centiles
5 requirments for normal human growth
- Absence of chronic disease
- Emotional stability
- Adequate nutrition
- Normal hormone/ growth factor actions
- Healthy growth plates
What affects growth during infancy
Nutrition
What affects growth during childhood
Growth hormone
T4
What affects growth during puberty
Growth hormone
Sex steroids
T4
What could be the cause of disproportionate short stature
Achondroplasia
Hydrochondroplasia
Leri-Weill dyschonrosteosis
What should you calculate standard deviation score for
Subischial length
Sitting height
SDS=
(measurment-mean)/ SD
Features of LWD
Skeletal dysplasia Mid-part limb shorterning Reduced subischial length Forearm deformity Bowing of radius Dorsal dislocation ulna Premature epiphyseal fracture
What characterises Madelung deformity
Congenital dislocation of distal ulnar
In what diseases is Mudelung deformity seen
50-74% of LWD
3-7% Turners
When is Madelung deformity clinically apparent
Puberty
What does SHOX gene stand for
Short stature homeobox gene
What is the most important monogenic cause of short stature in human
SHOX Haploinsufficiency
What tests are done when short stature is proportionate?
Psychosocial assessment
Syndromic features karyotype
Tests for systemic disorders
Tests for endocrine disorders
What short stature syndrome can be picked up on via karyotype
Turner Syndrome
When is Turners syndrome diagnosed and in what propotion>
15% at birth
21% during childhood
26% in teenagerhood
38% in adulthood
Describe the clinical phenotype in Turner Syndrome
Short stature Webbed neck Shield test Widely spaced nipple Knock knees Shortening of 4/5 metacarpal Gonadal dysgenesis Cubitus valgus
What tests should be done for systemic disorders causing short stature
Complete blood count ESR Blood urea Insulin like growth factor 1 TSH, FT4 Karyotype (F only)
What systemic disorders are tested for
Chronic renal insufficiency
Gastrointestinal disease
Nutritional deficiency
What can be tested for by IGF-1 GH stimulation test
GH insensitivity/ resistance
GI deficiency
When is the pituitary cell stimulated to release GH
Growth hormone releasing hormone
What inhibits release of GH
Somatostatin
How often are pulses of GH released
Every 3-4 hours
