Obesity – assessment in secondary care and associated dysmorphisms

Article by Dr Hajera Sheikh, paediatric registrar

Assessment in Secondary Care

• Lifestyle Assessment
• Menstrual History
• Obstructive Sleep Apnoea:  Snoring, difficulty breathing during sleep, morning headaches or fatigue
• Symptoms of co-morbidity including psychological
• Drug use (particularly glucocorticoids and atypical antipsychotics)
• Family history, particularly diabetes <40 yrs, early heart disease <60 yrs
• Height, weight, BMI
• Obesity pattern: generalised, central (greater risk of adverse cardiovascular outcomes), buffalo hump and neck (may be suggestive of Cushing syndrome)
• Blood pressure
• Pubertal assessment
• Acanthosis nigricans (indicative of insulin resistance, first seen round neck and axillae)
• Signs of endocrinopathy
• Dysmorphisms: (Look out for early onset obesity, learning difficulties, deafness, epilepsy, retinitis, dysmorphic features, hypogonadism)

Investigations (directed)
• Urinalysis
• Thyroid function
• Fasting lipids (total and HDL cholesterol), triglycerides
• Liver function, including ALT
• Fasting glucose and insulin not usually done first line

Refer to Paediatric Obesity/Endocrinology or other specialist service if further investigation is required

• Genetic studies
• Thyroid studies: T3, thyroid antibodies, calcium, phosphate
• Cushing syndrome investigations

For co-morbidities
• Oral glucose test
• PCOS studies (LH, FSH, adrenal androgens, Sex Hormone Binding Globulin, prolactin, pelvic ultrasound)
• Sleep Study

Dysmorphic and monogenic syndromes associated with obesity:

Main clinical obesity associated syndromes:
• Chromosomal
Prader-Willi syndrome
Trisomy 21
• Autosomal dominant
Biemond syndrome (some cases)
• Autosomal recessive
Aistrom syndrome
Bardet-Biedl syndrome
Biemond Syndrome(some cases)
Carpenter syndrome
Cohen syndrome
• X-linked inheritance
Borjeson-Forssman-Lehmann syndrome
• Single gene lesions affecting leptin metaboilsm
Congenital leptin deficiency
Leptin receptor mutation
Prohormone convertase 1 mutation
Melanocortin 4 mutation

Clinical features suggesting obesity may be secondary to another condition or syndrome
• Severe unremitting obesity
• Disorders of the eyes
Retinal problems, especially retinitis pigmentosa
Narrow palpebral fissures
Abnormally positioned palpebral fissures
Severe squint (eg Prader-Willi)
• Skeletal abnormalities
• Sensorineural deafness (eg Alstrom syndrome: sensorineural deafness, diabetes mellitus, retinal dystrophy, obesity)
• Microcephaly and/or abnormally shaped skull
• Mental retardation
• Hypotonia
• Hypogonadism
Delayed puberty
• Renal abnormalities
• Cardiac abnormalities

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