ESPE Abstracts

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Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that usually needs urgent diagnosis and treatment. Whilst autoimmune adrenal insufficiency (Addison disease) and other destructive causes are common in teenage years and adulthood, rare genetic forms of PAI are more common in infancy and childhood. Aside from congenital adrenal hyperplasia (CAH) (usually 21-hydroxylase deficiency, 1:10,000-15,000), other causes of early-onset PAI include developmen...

I was diagnosed with Kallmann syndrome at the age of 23 in the 1990's. I was never seen by a paediatrician as a teenager, even though I had two additional "red flag" symptoms of anosmia and hearing loss in addition to my lack of puberty. I was seen as being a "late bloomer" and told to "wait and see". Even though the awareness of hypogonadotropic hypogonadism (HH) / Kallmann syndrome / Isolated GnRH deficiency has increased since my diagnosis...