hrp0084p2-437 | Gonads | ESPE2015

Implementation of a High Sensitive LC-MS/MS Method for Measurement of Oestradiol, Oestrone and Oestriol

Kulle Alexandra , Reinehr Thomas , Simic-Schleicher Gunter , Roscheswsky Jule , Welzel Maik , Holterhus Paul-Martin

Background: Specific measurement of low serum/plasma concentrations of 17β-oestradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. The role of oestrone (E1) and oestriol (E3) is not as comprehensively well understood in different pediatric endocrine disease states. We describe a method for high sensitivity analysis of estradiol (E2), oestrone (E1) and oestriol (E3) using LC-MS/MS.Objective and hypothes...

hrp0084p3-588 | Adrenals | ESPE2015

Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

Schulz Esther , Akkurt Halit Ilker , Muhlhausen Chris , Santer Rene , Welzel Maik , Holterhus Paul Martin

Background: Congenital isolated ACTH-deficiency is a rare disorder characterized by low plasma ACTH and cortisol levels and normal secretion of other pituitary hormones. TBX19 is a t-box transcription factor with a specific role in the differentiation of corticotroph cells. TPIT gene mutations can be found in early onset isolated ACTH deficiency.Case report: We report on a 2; 6 year old girl, offspring from consanguineous parents from Turkey, born at 40 ...

hrp0082p1-d3-17 | Adrenals & HP Axis (1) | ESPE2014

Aldosterone/Renin Ratio as Key Player in the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants

Ruecker Beate , Lang-Muritano Mariarosaria , Spanaus Katharina , Welzel Maik , Lallemand Dagmar , Phan-Hug Franziska , Konrad Daniel , Katschnig Claudia , Holterhus Paul-Martin , Schoenle Eugen

Background: Primary hypoaldosteronism (PA) is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. As plasma aldosterone concentration (PAC) can remain in the normal range, interpretation of the laboratory findings could be difficult and might lead to delayed initiation of therapy.Objective and Hypotheses: This study aims to show that PAC/PRC (plasma renin concentration) rat...

hrp0082p2-d1-264 | Adrenals & HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...