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2016 ; 2016
(ä): 10.1136/bcr-2016-214493
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Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip
syndrome)
#MMPMID27068725
Chakraborty PP
; Datta S
; Mukhopadhyay S
; Chowdhury S
BMJ Case Rep
2016[Apr]; 2016
(ä): 10.1136/bcr-2016-214493
PMID27068725
show ga
Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance
mimicking acromegaly in the absence of documented hypersomatotropism or past
exposure to excess growth hormone. It can develop secondary to a number of
congenital and acquired conditions of which severe insulin resistance is an
important example. Lipodystrophy syndromes are a group of rare disorders of which
autosomal recessive congenital generalised lipodystrophy is the most common type.
Patients with this disorder are predisposed to insulin resistance and its
associated complications such as diabetes mellitus, hypertriglyceridaemia, fatty
liver, polycystic ovaries and acanthosis nigricans. Elevated circulating insulin
levels in these patients rarely can give rise to soft tissue and bony overgrowth,
with resultant acromegaloidism. We report an adolescent girl presenting with
unusual prominence of her hands and feet; a thorough evaluation ultimately
revealed a diagnosis of congenital generalised lipodystrophy.