Search Results - "Sippell, W"

LC–MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers by Kulle, A E, Riepe, F G, Hedderich, J, Sippell, W G, Schmitz, J, Niermeyer, L, Holterhus, P M

“…ObjectiveHeterozygosity in 21-hydroxylase deficiency (21OHD) has been associated with hyperandrogenemic symptoms in children and adults. Moreover, the carrier…”
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Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens by Partsch, C-J., Sippell, W. G.

“…Precocious puberty is generally defined as the appearance of secondary sex characteristics before age 8 years in girls (or menarche before age 9 years) and…”
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Long-term outcome after depot gonadotropin-releasing hormone agonist treatment of central precocious puberty: Final height, body proportions, body composition, bone mineral density, and reproductive function by HEGER, S, PARTSCH, C.-J, SIPPELL, W. G

“…A considerable number of patients with central precocious puberty (CPP) treated with depot GnRH agonists have reached final height (FH). The aim of this…”
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Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life by Kruse, B, Riepe, F G, Krone, N, Bosinski, H A G, Kloehn, S, Partsch, C J, Sippell, W G, Mönig, H

“…Congenital adrenal hyperplasia (CAH) is caused by a defect in the biosynthesis of cortisol that results in maximal activity of the hypothalamic-pituitary…”
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Growth impairment in a boy with late-onset congenital adrenal hyperplasia and anorexia nervosa by Niedziela, M, Sippell, W

“…Treatment of congenital adrenal hyperplasia (CAH) in its salt-wasting form with appropriate doses of glucocorticoids and mineralocorticoids should promote…”
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Congenital adrenal hypoplasia : Clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene by PETER, M, VIEMANN, M, PARTSCH, C.-J, SIPPELL, W. G

“…X-linked congenital adrenal hypoplasia (AHC) is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the DAX-1…”
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Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications by Woelfle, J., Hoepffner, W., Sippell, W. G., Brämswig, J. H., Heidemann, P., Deiß, D., Bökenkamp, A., Roth, C., Irle, U., Wollmann, H. A., Zachmann, M., Kubini, K., Albers, N.

“…Summary objective  In girls with congenital adrenal hyperplasia (CAH), genital ambiguity usually leads to a rapid neonatal diagnosis. Rarely, CAH causes…”
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Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature by Partsch, C-J, Riepe, F G, Krone, N, Sippell, W G, Pohlenz, J

“…Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) beta subunit ( TSHB). The…”
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Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Krone, N, Riepe, F G, Partsch, C-J, Vorhoff, W, Brämswig, J, Sippell, W G

“…Congenital adrenal hyperplasia (CAH) [OMIM 201 910] is a group of autosomal recessive disorders most commonly due to 21-hydroxylase deficiency and presenting…”
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Endocrine evaluation after endoscopic third ventriculostomy (ETV) in children by Fritsch, M J, Bauer, M, Partsch, C J, Sippell, W G, Mehdorn, H M

“…Endoscopic third ventriculostomy (ETV) is a standard procedure for the treatment of obstructive hydrocephalus in children. Main part of the procedure is the…”
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Growth hormone therapy for short children born small for gestational age by Chatelain, P, Carrascosa, A, Bona, G, Ferrandez-Longas, A, Sippell, W

“…Children born small for gestational age may demonstrate continued growth retardation, resulting in persistent short stature. In the majority of the cases, this…”
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Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Riepe, F G, Krone, N, Krüger, S N, Sweep, F C G J, Lenders, J W M, Dötsch, J, Mönig, H, Sippell, W G, Partsch, C-J

“…Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency suffer from glucocorticoid and mineralocorticoid deficiency. They have…”
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Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency by Pulichino, Anne-Marie, Vallette-Kasic, Sophie, Couture, Catherine, Gauthier, Yves, Brue, Thierry, David, Michel, Malpuech, Georges, Deal, Cheri, Van Vliet, Guy, De Vroede, Monique, Riepe, Felix G, Partsch, Carl-Joachim, Sippell, Wolfgang G, Berberoglu, Merih, Atasay, Begüm, Drouin, Jacques

“…Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin (POMC) gene and for terminal differentiation…”
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Scrotal temperature is increased in disposable plastic lined nappies by Partsch, C-J, Aukamp, M, Sippell, W G

“…OBJECTIVES Male reproductive health has deteriorated in recent decades. It is proposed that increased testicular temperature in early childhood, due to the use…”
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Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay by Riepe, F.G, Wonka, S, Partsch, C.-J, Sippell, W.G

“…A new, simple, rapid and highly practicable automated chromatographic system for the separation, and a sensitive radioimmunoassay system for the subsequent…”
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Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001 by Ranke, MB, Partsch, CJ, Lindberg, A, Dorr, HG, Bettendorf, M, Hauffa, BP, Schwarz, HP, Mehls, O, Sander, S, Stahnke, N, Steinkamp, H, Said, E, Sippell, W

“…OBJECTIVES: We aimed to evaluate the factors influencing true adult height (HT) after long-term (from 1987 to 2000) GH treatment in Ullrich-Turner syndrome…”
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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency by GELEY, S, KAPLERAI, K, KOFLER, R, JÖHRER, K, PETER, M, GLATZL, J, VIERHAPPER, H, SCHWARZ, S, HELMBERG, A, SIPPELL, W. G, WHITE, P. C

“…Accurate knowledge of the molecular basis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a prerequisite for genetic counseling,…”
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A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty by GROMOLL, J, PARTSCH, C, SIMONI, M, NORDHOFF, V, SIPPELL, W. G, NIESCHLAG, E, SAXENA, B. B

“…We describe a patient with onset of puberty at the age of 5 yr. characterized by accelerated growth, enlargement of genitalia, pubarche, and serum hormone…”
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Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency by Riepe, F.G, Krone, N, Peter, M, Sippell, W.G, Partsch, C.-J

“…A new chromatographic system for the steroid precursor separation and a sensitive radioimmunoassay system for the subsequent measurement of…”
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A higher rate of hyperandrogenic disorders in female-to-male transsexuals by Bosinski, Hartmut A.G., Peter, Michael, Bonatz, Gabriele, Arndt, Reinhard, Heidenreich, Maren, Sippell, Wolfgang G., Wille, Reinhard

“…In an effort to elucidate the aetiology of female-to-male transsexualism (FM-TS) 12 out of an annual sample of 16 untreated female-to-male transsexuals (FMT),…”
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