ESPE Abstracts

Background: The StAR protein is crucial for the transportation of cholesterol to the mitochondria, where it is converted to pregnenolone. Complete loss of StAR protein function impairs adrenal and gonadal steroidogenesis since the fetal period, called classic lipoid adrenal hyperplasia (CLAH). Nonclassic lipoid adrenal hyperplasia (NCLAH) is a recently recognized disorder, with partial StAR protein function, and several mutations causing NCLAH have been reported.<p class="...

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...

Background: Heterozygous loss-of-function mutations of FGFR1 are known to cause Kallmann syndrome (KS) and isolated hypogonadotropic hypogonadism (IHH). Furthermore, recent studies have also indicated that heterozygous loss-of-function mutations lead to IHH and split hand/foot malformation (SHFM).Objective and hypotheses: The objective of this study was to examine FGFR1 in three Japanese patients with IHH and SHFM.Method: ...