hrp0089p3-p116 | Diabetes & Insulin P3 | ESPE2018

Monogenic Diabetes in 2 Years and 4 Months Old Girl: Is it DEND?

Rochmah Nur , Faizi Muhammad , Purwana Arie

Background: Monogenic forms of diabetes are still rare and not well understood. Their prevalence accounting for 1–4% of pediatric diabetes cases. Several genes encoding proteins important to β-cell function or regulation have been identified that lead to monogenic diabetes. However, awareness of these conditions may be lacking, and screening for them genetically is not routinely undertaken due to lack facility.Objective: To report a case diagno...

hrp0089p3-p314 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Klinefelter Syndrome with Ambiguous Genitalia in a Child

Faizi Muhammad , Rochmah Nur , Purwana Arie

Background: Klinefelter Syndrome (KS) is the most common sex chromosome disorder in males caused by additional X chromosome. It is characterized by progressive testicular failure. KS patient usually have complete male sexual differentiation without genital ambiguity. The prevalence of KS is 1 in 660 males which only 10% are detected before or during puberty, and about two third so fall men with X-chromosome polyploidies fail to be identified during their lifetime.<p class=...