Olaf Hiort

Summary

Country: Germany

Publications

  1. ncbi request reprint The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome
    Arieh Riskin
    Department of Neonatology, Bnai Zion Medical Center, B Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
    J Pediatr Endocrinol Metab 19:1437-43. 2006
  2. doi request reprint Disorders of sex development in developmental syndromes
    Olaf Hiorta
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Lubeck, Germany
    Endocr Dev 14:174-80. 2009
  3. doi request reprint Clinical and molecular aspects of androgen insensitivity
    Olaf Hiort
    Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Universitat zu Lubeck, Lubeck, Germany
    Endocr Dev 24:33-40. 2013
  4. doi request reprint Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development
    Olaf Hiort
    Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Germany
    J Pediatr Urol 8:624-8. 2012
  5. pmc Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
    H J Girschick
    Children s Hospital, University of Wurzburg, Germany
    Orphanet J Rare Dis 1:24. 2006
  6. ncbi request reprint The basis of gender assignment in disorders of somatosexual differentiation
    Olaf Hiort
    Clinical Research Group Intersex From Gene to Gender KFO 111, Department of Paediatrics, University of Lubeck, Lubeck, Germany
    Horm Res 64:18-22. 2005
  7. ncbi request reprint Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
    Olaf Hiort
    Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 90:538-41. 2005
  8. doi request reprint Alternative gender categories in different cultures: lessons to be learnt. Commentary on Lang and Kuhnle: intersexuality and alternative gender categories in non-Western cultures (Horm Res 2008;69:240-250)
    Olaf Hiort
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany
    Horm Res 69:251-2. 2008
  9. ncbi request reprint [Ambiguous genitalia and molecular biology: a clinical perspective]
    O Hiort
    Klinik fur Kinder und Jugendmedizin, Universitatsklinikum Lubeck, Lubeck, Germany
    Minerva Pediatr 55:32-5. 2003
  10. ncbi request reprint A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency
    Olaf Hiort
    Department of Pediatrics, Medical University of Lubeck, Lubeck, Germany
    Int J Androl 25:55-8. 2002

Collaborators

Detail Information

Publications52

  1. ncbi request reprint The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome
    Arieh Riskin
    Department of Neonatology, Bnai Zion Medical Center, B Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
    J Pediatr Endocrinol Metab 19:1437-43. 2006
    ..Full multidisciplinary diagnostic work-up immediately after delivery, as well as awareness of possible prenatal diagnosis, is the responsibility of the primary care provider for the newborn with suspected AIS...
  2. doi request reprint Disorders of sex development in developmental syndromes
    Olaf Hiorta
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Lubeck, Germany
    Endocr Dev 14:174-80. 2009
    ..The characterization of the underlying diagnosis will improve genetic counseling of the family including prognosis and recurrence risk...
  3. doi request reprint Clinical and molecular aspects of androgen insensitivity
    Olaf Hiort
    Division of Experimental Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Universitat zu Lubeck, Lubeck, Germany
    Endocr Dev 24:33-40. 2013
    ..Only one regulated gene APOD has currently been identified to serve as a clinical tool for the diagnosis of androgen insensitivity...
  4. doi request reprint Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development
    Olaf Hiort
    Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Germany
    J Pediatr Urol 8:624-8. 2012
    ..A proposal for the additional information to be obtained is discussed...
  5. pmc Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
    H J Girschick
    Children s Hospital, University of Wurzburg, Germany
    Orphanet J Rare Dis 1:24. 2006
    ..There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or impairments, subsequent to the molecular defect...
  6. ncbi request reprint The basis of gender assignment in disorders of somatosexual differentiation
    Olaf Hiort
    Clinical Research Group Intersex From Gene to Gender KFO 111, Department of Paediatrics, University of Lubeck, Lubeck, Germany
    Horm Res 64:18-22. 2005
    ..Premature decisions leading to irreversible interventions before an accurate diagnosis has been established must be avoided...
  7. ncbi request reprint Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
    Olaf Hiort
    Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 90:538-41. 2005
    ..The possibility of P450scc-independent pathways of steroid synthesis in addition to the current concept of luteoplacental shift of progesterone synthesis in humans has to be questioned...
  8. doi request reprint Alternative gender categories in different cultures: lessons to be learnt. Commentary on Lang and Kuhnle: intersexuality and alternative gender categories in non-Western cultures (Horm Res 2008;69:240-250)
    Olaf Hiort
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany
    Horm Res 69:251-2. 2008
  9. ncbi request reprint [Ambiguous genitalia and molecular biology: a clinical perspective]
    O Hiort
    Klinik fur Kinder und Jugendmedizin, Universitatsklinikum Lubeck, Lubeck, Germany
    Minerva Pediatr 55:32-5. 2003
  10. ncbi request reprint A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency
    Olaf Hiort
    Department of Pediatrics, Medical University of Lubeck, Lubeck, Germany
    Int J Androl 25:55-8. 2002
    ..This case demonstrates that even despite a complete loss of function of 5alpha-reductase type 2, marked virilization is possible, most likely the result of a testosterone (T) effect during foetal life...
  11. ncbi request reprint Androgen insensitivity and male infertility
    O Hiort
    Department of Pediatrics, University Hospital of Lübeck, Germany
    Int J Androl 26:16-20. 2003
    ..However, the molecular mechanisms that lead to inhibition of spermatogenesis because of a mutated androgen receptor are poorly understood and will need more focus in the future...
  12. ncbi request reprint Puberty in disorders of somatosexual differentiation
    Olaf Hiort
    Department of Pediatrics, University Hospital of Lübeck, Germany
    J Pediatr Endocrinol Metab 16:297-306. 2003
    ..In this review we focus not only on the molecular impact of sex steroid action, but also view current opinions and studies on the gender development of the intersex patient during puberty...
  13. pmc Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes
    Paul Martin Holterhus
    Department of Pediatrics, Christian Albrechts University of Kiel, Germany
    BMC Genomics 10:292. 2009
    ..g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females...
  14. ncbi request reprint A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency
    Susanne Thiele
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany
    J Clin Endocrinol Metab 92:1764-8. 2007
    ..Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia...
  15. doi request reprint Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome
    Mahesh Appari
    Department of Pediatrics, University Hospital Schleswig Holstein, Christian Albrechts University of Kiel, Germany
    J Mol Med (Berl) 87:623-32. 2009
    ..Therefore, qRT-PCR of APOD messenger RNA transcription in primary cultures of labioscrotal skin fibroblasts is a promising tool for assessing AR function, potentially allowing a function-based diagnostic evaluation of AIS in the future...
  16. pmc Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome
    Paul Martin Holterhus
    Department of Pediatrics, University Hospital Schleswig Holstein, Campus Kiel, Schwanenweg 20, Kiel, Germany
    BMC Genomics 8:376. 2007
    ....
  17. ncbi request reprint Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription
    Jan Hendrik Bebermeier
    Department of Pediatric and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, Lubeck, Germany
    J Mol Med (Berl) 84:919-31. 2006
    ..Therefore, differential expression patterns of AR coregulators could modify tissue-specificity and diversity of androgen actions in development, physiology, and disease...
  18. ncbi request reprint The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats
    Ralf Werner
    Department of Pediatric and Adolescent Medicine, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 91:3515-20. 2006
    ..In addition, they also harbor a rare A645D substitution...
  19. ncbi request reprint Deciding on gender in children with intersex conditions: considerations and controversies
    Ute Thyen
    Department of Child and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, University of Lubeck, Lubeck, Germany
    Treat Endocrinol 4:1-8. 2005
    ....
  20. ncbi request reprint Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs
    Ralf Werner
    Department of Pediatric and Adolescent Medicine, University of Lubeck, Germany
    J Steroid Biochem Mol Biol 101:1-10. 2006
    ..Assessment of transactivation patterns in vitro may be an interesting concept to extend functional description of AR-gene mutations in AIS...
  21. doi request reprint Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction
    Felix G Riepe
    Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, Kiel, Germany
    J Clin Endocrinol Metab 93:2891-5. 2008
    ..Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene...
  22. ncbi request reprint Different Pattern of Epigenetic Changes of the GNAS Gene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification o
    Bettina Brix
    Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 99:E1564-70. 2014
    ..However, recently, pathogenic GNAS mutations in a subset of PHPIc patients were found...
  23. ncbi request reprint Gender role behavior in children with XY karyotype and disorders of sex development
    Martina Jürgensen
    Department of Child and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, D 23538 Lubeck, Germany
    Horm Behav 51:443-53. 2007
    ..We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions...
  24. doi request reprint Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis
    Lutz Wünsch
    Department of Paediatric Surgery, University of Lubeck, Lubeck, Germany
    BJU Int 110:E958-65. 2012
    ..Biopsy, gonadopexy and precise localisation of the gonad will potentially allow for gonadal preservation in well-defined clinical situations...
  25. ncbi request reprint "Any decision is better than none" decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency
    Martina Jürgensen
    Department of Child and Adolescent Medicine, University Hospital Schleswig Holstein, Campus Lubeck, University of Lubeck, Lubeck, Germany
    Arch Sex Behav 35:359-71. 2006
    ..Both children appeared to show age-typical gender-related behavior and did not show any signs of physical or mental distress...
  26. doi request reprint RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation
    Helga Grötsch
    Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Mol Cell Endocrinol 358:53-62. 2012
    ..RWDD1 enhanced AR-dependent transactivation in reporter assays with promoters of different complexity and in different cell lines. These results suggest that RWDD1 functions as a coactivator of androgen-dependent transcription...
  27. pmc Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5
    Senay Savas Erdeve
    Ankara University School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey
    J Clin Res Pediatr Endocrinol 2:85-8. 2010
    ..We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease...
  28. ncbi request reprint 46,XY disorders of sex development--the undermasculinised male with disorders of androgen action
    Ralf Werner
    Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Best Pract Res Clin Endocrinol Metab 24:263-77. 2010
    ..Endocrine therapy in androgen-insensitivity syndrome is controversial, because till date the special hormonal profiles in androgen insensitivity have not been acknowledged in replacement strategies...
  29. pmc Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction
    Susanne Thiele
    Department of Pediatrics and Adolescent Medicine, University of Lubeck, Germany
    Hum Mutat 32:653-60. 2011
    ..L388P disrupted both receptor-mediated activation and receptor-independent activation. We present a new subgroup of PHP that is caused by Gsα deficiency and selectively affects receptor coupling functions of Gsα...
  30. ncbi request reprint Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy
    Wiebke Ahrens
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig Holstein, Campus Lubeck, Germany
    J Pediatr Endocrinol Metab 19:647-51. 2006
    ..However, the mutation detection rate in GNAS is highly variable. The genetic heterogeneity of AHO needs further investigation...
  31. doi request reprint Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy
    Verena M Wagner
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University of Lubeck, Lubeck, Germany
    Eur J Pediatr 168:359-61. 2009
    ..2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations...
  32. pmc Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor
    Paul Martin Holterhus
    Department of Urology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Genome Biol 4:R37. 2003
    ....
  33. ncbi request reprint Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)
    Ute Thyen
    Hospital for Children and Adolescents, University Lübeck, Lubeck, Germany
    J Gen Intern Med 29:752-9. 2014
    ..A lack of informed consent, secrecy about the condition, shame, and impaired sexual and psychosocial functioning may affect satisfaction with care...
  34. pmc The differential role of androgens in early human sex development
    Olaf Hiort
    Division of Experimental Paediatric Endocrinology and Diabetes, University of Lubeck, Lubeck, Germany
    BMC Med 11:152. 2013
    ..For every cell programmed by androgens, a specific 'androgen response index' must be proposed. ..
  35. ncbi request reprint A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation
    Loukas Argyriou
    Institut fur Humangenetik, Lubeck, Germany
    Clin Dysmorphol 19:190-4. 2010
    ..The karyotype was described as 46,XY,der(9)t(9;15)(p23;q25.3). We discuss the clinical and molecular cytogenetic findings with respect to the literature...
  36. ncbi request reprint Epidemiology and initial management of ambiguous genitalia at birth in Germany
    Ute Thyen
    Department of Pediatrics, University Medical Centre Schleswig Holstein, Campus Lubeck, Lubeck, Germany
    Horm Res 66:195-203. 2006
    ..In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies...
  37. ncbi request reprint Health-related quality of life in children with disorders of sex development (DSD)
    Martina Jürgensen
    Institute of Social Medicine and Epidemiology, University of Lubeck, Lubeck, Germany
    Eur J Pediatr 173:893-903. 2014
    ..05). Girls with congenital adrenal hyperplasia who experienced gender dysphoria reported lower HRQOL scores compared to the study group at large. Atypical gender role behaviour was not associated with HRQOL...
  38. ncbi request reprint Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males
    Susanne Thiele
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lubeck, Lubeck, Germany
    Eur J Endocrinol 152:875-80. 2005
    ..We investigated whether 5RI is transcribed in normal male genital skin fibroblasts (GSFs) and if the transcription is regulated by age or by androgens themselves...
  39. ncbi request reprint Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy
    Paul Martin Holterhus
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian Albrechts Universitat zu Kiel, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany
    Diabetes Care 30:568-73. 2007
    ..We aimed at classification of basal insulin infusion rate regimens and comparing patients' underlying clinical characteristics...
  40. ncbi request reprint Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene
    Felix G Riepe
    Department of Pediatrics, Division of Pediatric Endocrinology, Universitatsklinikum Schleswig Holstein, Campus Kiel, Christian Albrechts Universitat, Germany
    Eur J Endocrinol 152:515-9. 2005
    ..To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy...
  41. ncbi request reprint Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency
    Snjezana M Schütt
    Department of Pediatrics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Eur J Endocrinol 149:317-21. 2003
    ..The conventional treatment of XLH includes the administration of phosphate and calcitriol; however, treated patients usually present with a short stature. Therefore, additional coexistent defects, such as GH deficiency, are under debate...
  42. ncbi request reprint Androgens and puberty
    Olaf Hiort
    Klinik fur Kinder und Jugendmedizin, Universitatsklinikum Lubeck, Ratzeburger Allee 160, Lubeck 23538, Germany
    Best Pract Res Clin Endocrinol Metab 16:31-41. 2002
    ..The control of their biosynthesis, their possible differential action on the molecular level, as well as the different target organs in males and females are discussed...
  43. ncbi request reprint Mutational analysis of Hungarian patients with androgen insensitivity syndrome
    Dora Scheiber
    2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest, Hungary
    J Pediatr Endocrinol Metab 16:367-73. 2003
    ..To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene...
  44. ncbi request reprint We used to call them hermaphrodites
    Eric Vilain
    Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California 90095 7088, USA
    Genet Med 9:65-6. 2007
  45. ncbi request reprint 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal
    Silvano Bertelloni
    Pediatric Endocrinology, Department of Reproductive Medicine and Paediatrics, University of Pisa, Santa Chiara Hospital, Pisa, Italy
    Gynecol Endocrinol 22:488-94. 2006
    ..The clinical, endocrine and genetic features of 17beta-HSD3 deficiency are also reviewed...
  46. ncbi request reprint [Incomplete androgen insensitivity]
    Andrea Luczay
    Semmelweis Egyetem, Általános Orvostudományi Kar, II Gyermekgyógyászati Klinika, Budapest
    Orv Hetil 147:1805-7. 2006
    ..The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family...
  47. ncbi request reprint A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome
    Assimina Galli-Tsinopoulou
    Children s Hospital, 4th Pediatric Department, Aristotles University, Thessaloniki, Greece
    J Pediatr Endocrinol Metab 16:149-54. 2003
    ..We conclude that phenotypic variations in mild AR defects are striking and can remain undetected even until late in life...
  48. ncbi request reprint Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias
    Antje Tria
    Department of Pediatric and Adolescent Medicine, Klinikum der Stadt Wolfsburg, Sauerbruchstrasse 7, DE 38440 Wolfsburg, Germany
    Horm Res 61:180-3. 2004
    ..We investigated 10 patients with elevated T/DHT ratios in whom mutations in the SRD5A2 and AR genes had been excluded to find out whether structural alterations of the SRD5A1 gene could contribute to their genital malformations...
  49. ncbi request reprint A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
    Mithat Bahceci
    Department of Endocrinology, University of Dicle, School of Medicine, Diyarbakir, Turkey
    Urology 66:407-10. 2005
    ..To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family...
  50. ncbi request reprint The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007
    Inas Mazen
    National Research Center, Cariro, Egypt
    Pediatr Endocrinol Rev 5:922-3. 2008
  51. ncbi request reprint Intersex - from gene to gender. Lubeck, Germany, 1-3 April 2004
    Olaf Hiort
    Pediatr Endocrinol Rev 2:50-2. 2004
  52. ncbi request reprint [Intersexual children. Who decides on their sex?]
    Olaf Hiort
    MMW Fortschr Med 146:18. 2004