A novel mutation in the ABCD1 gene of a patient with X-linked adrenoleukodystrophy presenting with central precocious puberty: a case report

AbstractX-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by the variations in the ATP-binding cassette sub-family D member 1 (ABCD1) gene located on the X-chromosome, leading to an accumulation of very long chain fatty acids (VLCFAs), which impair many tissues, including the cerebral white matter, the spinal cord, and the adrenal cortex. However, no study has reported central precocious puberty (CPP ) in individuals with X-ALD. A 6-year-old proband presented with pigmentation of the skin and mucosa, elevated levels of plasma adrenocorticotropic hormone and VLCFAs, and no neurological dysfunctions. He had rapid growth in height velocity, testicular size of 5–6 mL, and penile length of 6 cm. A novel variant, c.1826A > G (p.Glu609Gly), was identified in exon 8 of the ABCD1 gene.