Adrenal insufficiency in phytosterolaemia.
BACKGROUND
Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood and tissues.


METHODS
We describe a family of Bangladesh origin, where three siblings (two males and one female) have homozygous mutations for phytosterolaemia, and exhibit short stature and adrenal failure with the female having ovarian failure.


RESULTS
The index case (18-year-old female) and her sibling (16 years) have adrenal insufficiency with hyperpigmentation and raised levels of ACTH, at 367 and 690 ng/l respectively. The youngest child at 7 years has normal adrenal function. In addition, the index case has ovarian failure and sibling 2 has partial growth hormone deficiency.


CONCLUSIONS
Although short stature is a recognised phenomenon, no previous association has been made between phytosterolaemia and other endocrine abnormalities. We postulate that the elevated plant sterol levels in phytosterolaemia may interfere with endocrine hormone synthesis; in particular, we present evidence that adrenal cholesterol metabolism may be preferentially affected, accounting for the adrenal insufficiency.
Mushtaq
T
T
Sheffield Children's Hospital, Sheffield S10 2TH, UK.
Wales
J K
JK
Wright
N P
NP
D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000309:Adrenal Insufficiency / Q000097:blood / Q000209:etiology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D001827:Body Height; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000209:etiology; D013006:Growth Hormone / Q000172:deficiency; D006720:Homozygote; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D008074:Lipoproteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010840:Phytosterols / Q000097:blood*; D016649:Primary Ovarian Insufficiency / Q000209:etiology