Endocrine Abstracts

Introduction: Langerhans’ Cell Histiocytosis (LCH) is a rare disease, more common in children than in adults, resulting from aberrant proliferation of Langerhans’ cells, belonging to the monocyte–macrophage system.Case history: We present the case report of a 40-year-old man with a 16-year history of polyuria, polydipsia and tiredness. For 10 years he had perianal, groin, abdomen and scalp scarring, hyperpigementation along with follicles ...

Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...

Inherited growth hormone insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Patients present with short stature associated with a mid-facial hypoplasia (Laron facial features) or with normal facial appearance. We previously described an intronic mutation in the GHR gene (A−1 to G−1 substitution in intron 6) resulting in the activation of a pseudoexon (6Ψ) in four related GHI patients with normal facial fea...