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Gonadal function in adult male patients with congenital adrenal hyperplasia.

Engels M, Gehrmann K, Falhammar H, Webb EA, Nordenström A, Sweep FC, Span PN, van Herwaarden AE, Rohayem J, Richter-Unruh A, Bouvattier C, Köhler B, Kortmann BB, Arlt W, Roeleveld N, Reisch N, Stikkelbroeck NMML, Claahsen-van der Grinten HL; dsd-LIFE group.

Eur J Endocrinol. 2018 Mar;178(3):285-294. doi: 10.1530/EJE-17-0862. Epub 2018 Jan 16.


Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.

Bonfig W, Roehl F, Riedl S, Brämswig J, Richter-Unruh A, Fricke-Otto S, Hübner A, Bettendorf M, Schönau E, Dörr H, Holl RW, Mohnike K.

Horm Res Paediatr. 2018;89(1):7-12. doi: 10.1159/000481775. Epub 2017 Oct 26.


Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.

Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”.

Pediatr Nephrol. 2018 Mar;33(3):447-456. doi: 10.1007/s00467-017-3820-3. Epub 2017 Oct 20.


Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Werner R, Mönig I, August J, Freiberg C, Lünstedt R, Reiz B, Wünsch L, Holterhus PM, Kulle A, Döhnert U, Wudy SA, Richter-Unruh A, Thorns C, Hiort O.

Sex Dev. 2015;9(5):260-8. doi: 10.1159/000442309. Epub 2015 Dec 18.


Homoarginine (hArg) and asymmetric dimethylarginine (ADMA) in short stature children without and with growth hormone deficiency: hArg and ADMA are involved differently in growth in the childhood.

Langen J, Kayacelebi AA, Beckmann B, Weigt-Usinger K, Carmann C, Hörster I, Lilienthal E, Richter-Unruh A, Tsikas D, Lücke T.

Amino Acids. 2015 Sep;47(9):1875-83. doi: 10.1007/s00726-015-2028-8. Epub 2015 Jun 28.


Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies.

Riedl S, Springer A, Häusler G, Price G, Richter-Unruh A, Stener-Victorin E, Wudy SA.

J Clin Endocrinol Metab. 2013 Aug;98(8):3115-20. doi: 10.1210/jc.2012-3383. Epub 2013 Jul 3.


Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.

Kossack N, Troppmann B, Richter-Unruh A, Kleinau G, Gromoll J.

Mol Cell Endocrinol. 2013 Feb 5;366(1):59-67. doi: 10.1016/j.mce.2012.11.018. Epub 2012 Dec 8.


Aromatase deficiency: rare cause of virilization.

Ludwikowski B, Heger S, Datz N, Richter-Unruh A, González R.

Eur J Pediatr Surg. 2013 Oct;23(5):418-22. doi: 10.1055/s-0032-1324798. Epub 2012 Oct 23. Review. No abstract available.


PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5.


Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

Boot AM, Lumbroso S, Verhoef-Post M, Richter-Unruh A, Looijenga LH, Funaro A, Beishuizen A, van Marle A, Drop SL, Themmen AP.

J Clin Endocrinol Metab. 2011 Jul;96(7):E1197-205. doi: 10.1210/jc.2010-3031. Epub 2011 Apr 13.


No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

Welzel M, Schwarz HP, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J, Krone N, Riepe FG, Holterhus PM.

J Clin Endocrinol Metab. 2010 May;95(5):2443-50. doi: 10.1210/jc.2009-1338. Epub 2010 Mar 16.


Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O.

BMC Genomics. 2009 Jul 1;10:292. doi: 10.1186/1471-2164-10-292.


Sexual pseudo-precocity caused by a somatic activating mutation of the LH receptor preceding true sexual precocity.

Kiepe D, Richter-Unruh A, Autschbach F, Kessler M, Schenk JP, Bettendorf M.

Horm Res. 2008;70(4):249-53. doi: 10.1159/000151598. Epub 2008 Sep 5.


Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.

Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J.

PLoS Med. 2008 Apr 22;5(4):e88. doi: 10.1371/journal.pmed.0050088.


Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).

Hoppe U, Wünsch L, Holterhus PM, Jocham D, Richter-Unruh A, Hiort O.

Sex Dev. 2007;1(4):230-7. doi: 10.1159/000104773.


Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.

Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus PM.

Sex Dev. 2008;2(6):302-8. doi: 10.1159/000195679. Epub 2009 Mar 10.


Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD.

BMC Genomics. 2007 Oct 18;8:376.


A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D.

Urology. 2005 Aug;66(2):407-10.


Clinical characteristics of type 2 diabetes mellitus in overweight European caucasian adolescents.

Reinehr T, Andler W, Kapellen T, Kiess W, Richter-Unruh A, Schönau E, Seewi O, Heinze E, Wabitsch M.

Exp Clin Endocrinol Diabetes. 2005 Mar;113(3):167-70.


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