Berthold P. Hauffa | University of Duisburg-Essen | 120 Publications | 891 Citations | Related Authors

Berthold P. Hauffa

University of Duisburg-Essen
120 Papers
891 Citations

Berthold P. Hauffa is an academic researcher from University of Duisburg-Essen. The author has contributed to research in topics: Medicine & Short stature. The author has an h-index of 31, co-authored 118 publications. Previous affiliations of Berthold P. Hauffa include Boston Children's Hospital.

Papers

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  1. Recommendations for the Diagnosis and Management of Prader-Willi Syndrome
    Authors: Anthony P. Goldstone, Anthony J. Holland, Berthold P. Hauffa, Anita Hokken-Koelega, Maithé Tauber +4 more
    Journal: The Journal of Clinical Endocrinology and Metabolism
    DOI: 10.1210/JC.2008-0649
    Date: 01 Nov 2008
    TL;DR: The diagnosis and management of this complex disorder requires a multidisciplinary approach with particular emphasis on the importance of early diagnosis using accredited genetic testing, use and monitoring of GH therapy from early childhood, control of the food environment and regular exercise.

  2. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Authors: Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir +11 more
    Journal: The Journal of Clinical Endocrinology and Metabolism
    DOI: 10.1210/JC.2011-0640
    Date: 01 Feb 2012
    TL;DR: The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malforms carried a major loss-of-function defect on one of the affected alleles.

  3. Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism?
    Authors: Julia Rohayem, Berthold P. Hauffa, Margaret Zacharin +4 more
    Journal: Clinical Endocrinology
    DOI: 10.1111/CEN.13164
    Date: 01 Jan 2017
    TL;DR: Testosterone treatment for pubertal induction in boys with hypogonadotropic hypogonadism provides virilization, but does not induce testicular growth or fertility.

  4. Prenatal diagnosis of P450 oxidoreductase deficiency (ORD)
    Authors: Cedric H.L. Shackleton, Josep Marcos, Wiebke Arlt, Berthold P. Hauffa +3 more
    Journal: American Journal of Medical Genetics Part A
    DOI: 10.1002/AJMG.A.30171
    Date: 30 Aug 2004
    TL;DR: It is proposed that excessive excretion of epiallopregnanediol together with low estriol may be prenatally diagnostic for OR deficiency (ORD).

  5. Behavioural and emotional disturbances in people with Prader-Willi Syndrome
    Authors: Hans-Christoph Steinhausen, Urs Eiholzer, Berthold P. Hauffa +3 more
    Journal: Journal of Intellectual Disability Research
    DOI: 10.1111/J.1365-2788.2004.00582.X
    Date: 01 Jan 2004
    TL;DR: This systematic study supports single case observations of a heightened psychiatric vulnerability of adolescent and young adult PWS subjects.