ESPE Abstracts

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Background: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease. The prevalence has been reported to be 1 in 10million with around 500 cases worldwide. The absence of functional adipocytes results in storage of lipids in other tissues, including muscle & liver. The diagnosis of CGL is based on clinical data; however, there is phenotypic heterogeneity. Metreleptin injections cause decreased appetite & is beneficial in loweri...

Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compart...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...