# 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](/content/authors/anthony-p-goldstone-4w62rf8egj/index.html), [Anthony J. Holland](/content/authors/anthony-j-holland-4e9v05sbwj/index.html), [Berthold P. Hauffa](/content/authors/berthold-p-hauffa-3gjk0w4kd4/index.html), [Anita Hokken-Koelega](/content/authors/anita-hokken-koelega-1o40qc71su/index.html), [Maithé Tauber](/content/authors/maithe-tauber-4avn6i52bl/index.html) +4 more  
   Journal: [The Journal of Clinical Endocrinology and Metabolism](/content/journals/the-journal-of-clinical-endocrinology-and-metabolism-r5pkbtoo/index.html)  
   DOI: [10.1210/JC.2008-0649](https://doi.org/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](/content/authors/nils-krone-1ft5b3rieu/index.html), [Nicole Reisch](/content/authors/nicole-reisch-52cza1uv7v/index.html), [Jan Idkowiak](/content/authors/jan-idkowiak-2c7zq1cxpc/index.html), [Vivek Dhir](/content/authors/vivek-dhir-4tfe2g3x0c/index.html) +11 more  
   Journal: [The Journal of Clinical Endocrinology and Metabolism](/content/journals/the-journal-of-clinical-endocrinology-and-metabolism-r5pkbtoo/index.html)  
   DOI: [10.1210/JC.2011-0640](https://doi.org/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](/content/authors/julia-rohayem-3cupu7gj5g/index.html), [Berthold P. Hauffa](/content/authors/berthold-p-hauffa-3gjk0w4kd4/index.html), [Margaret Zacharin](/content/authors/margaret-zacharin-1mymeljqm4/index.html) +4 more  
   Journal: [Clinical Endocrinology](/content/journals/clinical-endocrinology-2ubqnty7/index.html)  
   DOI: [10.1111/CEN.13164](https://doi.org/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](/content/authors/cedric-h-l-shackleton-578zwx1mfw/index.html), [Josep Marcos](/content/authors/josep-marcos-54p8zes39r/index.html), [Wiebke Arlt](/content/authors/wiebke-arlt-26321bbr4j/index.html), [Berthold P. Hauffa](/content/authors/berthold-p-hauffa-3gjk0w4kd4/index.html) +3 more  
   Journal: [American Journal of Medical Genetics Part A](/content/journals/american-journal-of-medical-genetics-part-a-1411itsx/index.html)  
   DOI: [10.1002/AJMG.A.30171](https://doi.org/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](/content/authors/hans-christoph-steinhausen-471yjgl8wq/index.html), [Urs Eiholzer](/content/authors/urs-eiholzer-opy6daqjle/index.html), [Berthold P. Hauffa](/content/authors/berthold-p-hauffa-3gjk0w4kd4/index.html) +3 more  
   Journal: [Journal of Intellectual Disability Research](/content/journals/journal-of-intellectual-disability-research-1w9v1ldh/index.html)  
   DOI: [10.1111/J.1365-2788.2004.00582.X](https://doi.org/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.