hrp0082p3-d3-942 | Puberty and Neuroendocrinology (1) | ESPE2014

A Severe LHRH-Independent Precocious Puberty in a 26-Month-Old Girl with a Clinical Diagnosis of McCune–Albright Syndrome

Flader Maciej , Latos-Bielenska Anna , Kapczuk Karina , Mankowski Przemyslaw , Malecka Elzbieta , Niedziela Marek

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

hrp0098p1-208 | Adrenals and HPA Axis 3 | ESPE2024

The prevalence of nephrocalcinosis among patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency – one-centre experience. Do we need a regular screening?

Banaszak-Ziemska Magdalena , Małecka Elżbieta , Obara-Moszyńska Monika , Rabska-Pietrzak Barbara , Flader Maciej , Słomko-Jóźwiak Małgorzata , Niedziela Marek

Introduction: In the literature, there are reports about nephrocalcinosis (NC), hypercalcemia, and hypercalciuria risk in patients with congenital adrenal hyperplasia (CAH). The prevalence and background of nephrocalcinosis is not established. Nephrocalcinosis refers to diffuse calcification in the renal parenchyma, generally in renal pyramids.Aim of the study: The study aimed to evaluate the prevalence of nephrocalcinos...

hrp0089rfc1.6 | Adrenals & HPA Axis | ESPE2018

A Laboratory Harmonization Strategy for Steroid Hormone Profiling by MoM-Transformed, Normalized Reference Ranges Independent of Age, Sex and Units

Kulle Alexandra E , Zalas Dominika , Reinehr Thomas , Niedziela Marek , Borzikowsky Christoph , Pinto Francisca , Baumann Juliane , Flader Maciej , Simic-Schleicher Gunter , Akkurt Halit Ilker , Heger Sabine , Hornig Nadine , Holterhus Paul-Martin

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...