Search Results - "Dörr, Helmuth G."

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey by Raue, Friedhelm, Pichl, Josef, Dörr, Helmuth-G., Schnabel, Dirk, Heidemann, Peter, Hammersen, Gerhard, Jaursch-Hancke, Cornelia, Santen, Reinhard, Schöfl, Christof, Wabitsch, Martin, Haag, Christine, Schulze, Egbert, Frank-Raue, Karin

“…Summary Objective  Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium‐sensing receptor (CaSR). Treatment…”
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Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency by Dörr, Helmuth G, Hess, Johannes, Penger, Theresa, Marx, Michaela, Oppelt, Patricia

“…The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). Both men and women with classic CAH have lower fertility rates than…”
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Quality of Survival and Growth in Children and Young Adults in the PNET4 European Controlled Trial of Hyperfractionated Versus Conventional Radiation Therapy for Standard-Risk Medulloblastoma by Kennedy, Colin, MBBS, MD, Bull, Kim, PhD, Chevignard, Mathilde, MD, Culliford, David, MSc, Dörr, Helmuth G., MD, Doz, François, MD, Kortmann, Rolf-Dieter, MD, Lannering, Birgitta, MD, Massimino, Maura, MD, Navajas Gutiérrez, Aurora, MD, Rutkowski, Stefan, MD, Spoudeas, Helen A., MD, Calaminus, Gabriele, MD

“…Purpose To compare quality of survival in “standard-risk” medulloblastoma after hyperfractionated radiation therapy of the central nervous system with that…”
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Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency by Dörr, Helmuth G., Penger, Theresa, Albrecht, Andrea, Marx, Michaela, Völkl, Thomas M. K.

“…Classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is characterized by increased prenatal adrenal androgen secretion. There…”
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Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany by Dörr, Helmuth G, Wollmann, Hartmut A, Hauffa, Berthold P, Woelfle, Joachim

“…Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to…”
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Intrauterine growth restriction (IUGR) is associated with increased leptin synthesis and binding capability in neonates by Tzschoppe, Anja, Struwe, Ellen, Rascher, Wolfgang, Dörr, Helmuth G., Schild, Ralf L., Goecke, Tamme W., Beckmann, Matthias W., Hofner, Benjamin, Kratzsch, Jürgen, Dötsch, Jörg

“…Summary Objective  Animal studies suggest pathological foetal programming of hypothalamic circuits regulating food intake in the setting of leptin deficiency…”
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Adrenarche and pubarche in girls with turner syndrome during growth-promoting therapy with human growth hormone by Dörr, Helmuth G, Penger, Theresa, Marx, Michaela, Rauh, Manfred, Oppelt, Patricia G, Völkl, Thomas K M

“…Data on adrenarche and pubarche in girls with Turner syndrome (TS) are inconsistent in the literature. The cohort consisted of 94 girls and young women with TS…”
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Simultaneously reduced gene expression of cortisol-activating and cortisol-inactivating enzymes in placentas of small-for-gestational-age neonates by Struwe, Ellen, MD, Berzl, Gabriele M., MD, Schild, Ralf L., MD, Beckmann, Matthias W., MD, Dörr, Helmuth G., MD, Rascher, Wolfgang, MD, Dötsch, Jörg, MD

“…Objective The enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) converts cortisol into cortisone. Reduced placental activity of 11β-HSD2 in…”
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Altered 24-Hour Blood Pressure Profiles in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency by Völkl, Thomas M. K., Simm, Diemud, Dötsch, Jörg, Rascher, Wolfgang, Dörr, Helmuth G.

“…Objective: Children and adolescents with classical congenital adrenal hyperplasia have been shown to be at risk for obesity associated with higher insulin and…”
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Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia by Welzel, Maik, Wüstemann, Nele, Ŝimić-Schleicher, Gunter, Dörr, Helmuth G., Schulze, Egbert, Shaikh, Guftar, Clayton, Peter, Grötzinger, Joachim, Holterhus, Paul-Martin, Riepe, Felix G.

“…Introduction: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrenal hyperplasia caused by inactivating mutations in the…”
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Klinefelter syndrome and mediastinal germ cell tumors by Völkl, Thomas M.K., Langer, Thorsten, Aigner, Thomas, Greess, Holger, Beck, Jörn D., Rauch, Anita M., Dörr, Helmuth G.

“…Precocious puberty is not a typical manifestation of patients with Klinefelter syndrome (KS). However, there is an increased incidence of mediastinal germ cell…”
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Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH) by Hoyer-Kuhn, Heike, Eckert, Alexander J, Binder, Gerhard, Bonfig, Walter, Dübbers, Angelika, Riedl, Stefan, Woelfle, Joachim, Dörr, Helmuth G, Holl, Reinhard W

“…Abstract Context Treatment of children with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is challenging. Linear growth and…”
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Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children by Simm, Diemud, Pfarr, Nicole, Pohlenz, Joachim, Prawitt, Dirk, Dörr, Helmuth G.

“…We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO)…”
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Short-term adverse effects of testosterone used for priming in prepubertal boys before growth hormone stimulation test by Albrecht, Andrea, Penger, Theresa, Marx, Michaela, Hirsch, Karin, Dörr, Helmuth G

“…Despite the fact that priming with sex steroids in prepubertal children before growth hormone (GH) provocative tests is recommended, there is an ongoing…”
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Automated, fast and sensitive quantification of 17α-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction by Rauh, Manfred, Gröschl, Michael, Rascher, Wolfgang, Dörr, Helmuth G.

“…Plasma 17α-hydroxyprogesterone (17-OHP), androstenedione and testosterone measurements are important for the diagnosis and monitoring of hyperandrogenic…”
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Spontaneous postnatal growth is reduced in children with CHARGE syndrome by Dörr, Helmuth G, Madeja, Julia, Junghans, Claudia

“…Aim There is a scarcity of data on postnatal growth in children with CHARGE syndrome, a genetic disorder. This study analysed spontaneous growth and weight in…”
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Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Volkl, Thomas M. K, Simm, Diemud, Beier, Christoph, Dorr, Helmuth G

“…Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common inherited disorder of adrenal steroid biosynthesis. Patients with the…”
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Hypergonadotropic hypogonadism and renal failure due to WT1 mutation by Benz, Kerstin, Plank, Christian, Amann, Kerstin, Mucha, Bettina, Dörr, Helmuth G., Rascher, Wolfgang, Dötsch, Jörg

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Levothyroxine Treatment of Euthyroid Children with Autoimmune Hashimoto Thyroiditis: Results of a Multicenter, Randomized, Controlled Trial by Dörr, Helmuth G, Bettendorf, Markus, Binder, Gerhard, Karges, Beate, Kneppo, Carolin, Schmidt, Heinrich, Voss, Egbert, Wabitsch, Martin, Dötsch, Jörg

“…Levothyroxine (L-T4) treatment of euthyroid children with Hashimoto thyroiditis (HT) is a controversial issue. We conducted a prospective, randomized,…”
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Differential effects of low birthweight and intrauterine growth restriction on umbilical cord blood insulin-like growth factor concentrations by Tzschoppe, Anja, Riedel, Christina, von Kries, Rüdiger, Struwe, Ellen, Rascher, Wolfgang, Dörr, Helmuth G., Beckmann, Matthias W., Schild, Ralf L., Goecke, Tamme W., Flyvbjerg, Allan, Frystyk, Jan, Dötsch, Jörg

“…Summary Objective Alterations in the growth hormone–insulin‐like growth factor (IGF) axis have been considered as a causal factor for intrauterine growth…”
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