Severe growth hormone deficiency can be detected with high accuracy using newborn screening cards, suggest researchers who recommend a diagnostic GH cutoff of less than 7 µg/L.
Three-week-old baby referred to the paediatric endocrine clinic from a general paediatrician with ambiguous genitalia, accompanied by very anxious and upset parents.
Childhood cancer survivors and endocrinopathies – the need for oncologist and endocrinologist collaboration
Dr Sogol Mostoufi focuses on the treatment-related endocrine side effects commonly experienced by childhood cancer survivors, and the need for screening, life-long follow-up and treatment in this high-risk population.
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Translational advances in the management of growth and puberty disorders
Recorded in São Paolo, Brazil
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A 4-year-old girl, referred to the Paediatric Assessment Unit by the GP, with a 2-week history of a cough, feeling unwell, and tired. Accompanied by her mother.
The type 1 diabetes genetic risk score differentiates between patients with monogenic and polygenic autoimmune diabetes and can thus be used to aid the discovery of novel genes associated with the monogenic form.
Recent developments in the field of pituitary gigantism, including the discovery of a new syndrome and genes related to this syndrome, were presented in a plenary session at the 58th Annual ESPE Meeting in Vienna, Austria.
The genetic causes of short stature are highly heterogenous and a new classification system for these children is needed, delegates were told at the 58th Annual ESPE Meeting in Vienna, Austria.
Growth hormone therapy in young children with Prader-Willi syndrome, genes linked to isolated short stature, and the role of insulin-like growth factor -2 in autoimmune disease are the subjects of three papers included in the 2019 Yearbook of Paediatric Endocrinology.
Oestrogen is key to the management of adolescents and young women with Turner syndrome, with hormone replacement therapy generally preferable to the contraceptive pill, delegates were told at the 58th Annual ESPE Meeting in Vienna, Austria.