Searchable abstracts of presentations at key conferences in endocrinology

ea0022p203 | Clinical case reports and clinical practice | ECE2010

Long-standing testicular adrenal rest tissues in a patient with congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency with homozygous mutation l299p in the Cyp11b1 gene

Bayraktaroglu Taner , Schulze Egbert , Alagol Faruk

Background: A testicular adrenal rest tumor in an adult males who complaint with testicular enlargement and fertility request, and diagnosed with congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency with homozygous mutation L299P in the CYP11B1 gene and accompanied by impaired spermatogenesis and Leydig cell failure was reported.Case Report: A 27-year-old man was complaint with bilateral progressive painful enlargement of the testes, cont...

ea0016p117 | Clinical cases | ECE2008

Simultaneous detection of a heterozygous deletion in the STX16 gene and loss of methylation at GNAS1A by methylation-specific MLPA in two patients with pseudohypoparathyroidism type 1b (PHP 1b)

Clausmeyer Susanne , Perschon Gerd , Nygren Anders , Schulze Egbert , Raue Friedhelm

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

ea0016p73 | Bone and calcium | ECE2008

Hyperparathyroidism-jaw tumor syndrome (HPT-JT): a new mutation in the HRPT2-gene

Haag Christine , Pauli Silke , Schulze Egbert , Frank-Raue Karin , Raue Friedhelm

Inactivating germline mutations in the HRPT2 tumor suppressor gene are the cause of the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The most common feature of HPT-JT is primary hyperparathyroidism, followed by ossifying fibromas of the maxilla and mandible, renal cysts and solid tumors. As recently recognized, mutations of this gene also play a central role in the molecular pathogenesis of parathyroid carcinoma.A 19-year-old woman presented with a g...

ea0016p286 | Endocrine tumours | ECE2008

Two new mutations in the RET protooncogene: R770Q in coincidence with Y791N in the same family with medullary thyroid carcinoma

Rondot Susanne , Lorenz Angela , Schulze Egbert , Dralle Henning , Raue Friedhelm , Frank-Raue Karin

Context: Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of three clinical risk groups.Objective: We analyzed genotype–phenotype correlations associated with the RET protooncogene mutation R770Q in exon 13 which was detected simultaneously with a Y791N mutation in the same family.Results: Calcitonin determination in a 43-year-old female ...

ea0016p585 | Paediatric endocrinology | ECE2008

Autosomal dominant hypophosphatemic rickets (ADHR) due to a novel mutation in the FGF23 gene

Clausmeyer Susanne , Jacobi Christoph , Haffner Karsten , Pohl Martin , Schulze Egbert , Raue Friedhelm

Two dominant inherited disorders of phosphate homeostasis, X-linked hypophosphatemia (XLH), and ADHR are known to be caused by inactivating mutations in the PHEX gene or activating mutations in the FGF23 gene (fibroblast growth factor 23), respectively. Both diseases show a similar phenotype with renal phosphate wasting and inappropriately normal or low 1,25-(OH)2-Vitamin D3 serum levels, leading to hypophosphatemic rickets and osteomalacia. The different...

ea0014p463 | (1) | ECE2007

Genotype-phenotype correlation in Romanian patients with classical forms of 21-hydroxylase deficiency

Zimmermann Anca , Grigorescu Sido Paula , Al-Khzouz Camelia , Nistor Tiberiu , Weber Matthias M , Schulze Egbert

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. We aimed to perform a genotype-phenotype analysis in Romanian patients with classical 21-hydroxylase deficiency.Patients and methods: We included 42 patients (13 males, 29 females, 19 with the salt wasting (SW) form, 29 with the simple virilizing (SV) form. Molecular analysis was performed by direct sequencing of PCR ampl...

ea0022p2 | Adrenal | ECE2010

Alterations in lipid and carbohydrate metabolism in patients with classic CAH due to 21-hydroxylase deficiency

Zimmermann Anca , Sido Paula Grigorescu , Khzouz Camelia Al , Patberg Karen , Bucerzan Simona , Schulze Egbert , Zimmermann Tim , Weber Matthias M

Background: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. We aimed to characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.Design: Cross-sectional comparative.Patients and methods: Of 27 Caucasian patients with classic 21HD (4–31 years); 27 sex-, age- and BMI-matched controls. Cli...