Filter

Refine by date

—

Refine by collections

Refine by access

  • Print
  • Save

Search Results

You are looking at 1 - 5 of 5 items for :

  • "disorders of sex development" x
  • Refine by access: All content x
Clear All
Emre Murat Altinkilic Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Department of BioMedical Research, University of Bern, Bern, Switzerland

Search for other papers by Emre Murat Altinkilic in
Google Scholar
PubMed Close
,
Philipp Augsburger Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Department of BioMedical Research, University of Bern, Bern, Switzerland
Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland

Search for other papers by Philipp Augsburger in
Google Scholar
PubMed Close
,
Amit V Pandey Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Department of BioMedical Research, University of Bern, Bern, Switzerland

Search for other papers by Amit V Pandey in
Google Scholar
PubMed Close
, and
Christa E Flück Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Department of BioMedical Research, University of Bern, Bern, Switzerland

Search for other papers by Christa E Flück in
Google Scholar
PubMed Close

gonadal failure; b Non-classic: defined as phenotype of PAI at onset only and without gonadal insufficiency in females in adulthood; c Cryptorchidism and mild hypospadias. Symbols: ↑, increased levels. ↓, decreased levels. DSD, disorder of sex

Article Type:
Review Article
DOI:
https://doi.org/10.1530/JOE-24-0078
Volume/Issue:
Volume 262: Issue 3
Restricted access
Marilyn B Renfree School of BioSciences, The University of Melbourne, Melbourne, Victoria, Australia

Search for other papers by Marilyn B Renfree in
Google Scholar
PubMed Close
and
Geoff Shaw School of BioSciences, The University of Melbourne, Melbourne, Victoria, Australia

Search for other papers by Geoff Shaw in
Google Scholar
PubMed Close

Since the discovery in 1968 that dihydrotestosterone (DHT) is a major mediator of androgen action, a convincing body of evidence has accumulated to indicate that the major pathway of DHT formation is the 5α-reduction of circulating testosterone in androgen target tissues. However, we now know that DHT can also be formed in peripheral tissues by the oxidation of 5α-androstane-3α,17β-diol (adiol). This pathway is responsible for the formation of the male phenotype. We discuss the serendipitous discovery in the tammar wallaby of an alternate pathway by which adiol is formed in the testes, secreted into plasma and converted in peripheral tissues to DHT. This alternate pathway is responsible for virilisation of the urogenital system in this species and is present in the testes at the onset of male puberty of all mammals studied so far. This is the first clear-cut function for steroid 5α-reductase 1 in males. Unexpectedly, the discovery of this pathway in this Australian marsupial has had a major impact in understanding the pathophysiology of aberrant virilisation in female newborns. Overactivity of the alternate pathway appears to explain virilisation in congenital adrenal hyperplasia CAH, in X-linked 46,XY disorders of sex development. It also appears to be important in polycystic ovarian syndrome (PCOS) since PCOS ovaries have enhanced the expression of genes and proteins of the alternate pathway. It is now clear that normal male development in marsupials, rodents and humans requires the action of both the classic and the alternate (backdoor) pathways.

Article Type:
Review Article
Collections:
Endocrine Society of Australia special collection
DOI:
https://doi.org/10.1530/JOE-22-0296
Volume/Issue:
Volume 258: Issue 3
Free access
Maria Tsachaki Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland

Search for other papers by Maria Tsachaki in
Google Scholar
PubMed Close
,
Arne Meyer Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland
AstraZeneca AG, Zug, Switzerland

Search for other papers by Arne Meyer in
Google Scholar
PubMed Close
,
Benjamin Weger Karlsruhe Institute of Technology (KIT), Institute of Toxicology and Genetics, Eggenstein-Leopoldshafen, Germany
Nestlé Institute of Health Sciences SA, EPFL Innovation Park, Lausanne, Switzerland

Search for other papers by Benjamin Weger in
Google Scholar
PubMed Close
,
Denise V Kratschmar Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland

Search for other papers by Denise V Kratschmar in
Google Scholar
PubMed Close
,
Janina Tokarz Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics, Genome Analysis Center, Neuherberg, Germany

Search for other papers by Janina Tokarz in
Google Scholar
PubMed Close
,
Jerzy Adamski Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics, Genome Analysis Center, Neuherberg, Germany

Search for other papers by Jerzy Adamski in
Google Scholar
PubMed Close
,
Heinz-Georg Belting Biozentrum, University of Basel, Basel, Switzerland

Search for other papers by Heinz-Georg Belting in
Google Scholar
PubMed Close
,
Markus Affolter Biozentrum, University of Basel, Basel, Switzerland

Search for other papers by Markus Affolter in
Google Scholar
PubMed Close
,
Thomas Dickmeis Karlsruhe Institute of Technology (KIT), Institute of Toxicology and Genetics, Eggenstein-Leopoldshafen, Germany

Search for other papers by Thomas Dickmeis in
Google Scholar
PubMed Close
, and
Alex Odermatt Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland

Search for other papers by Alex Odermatt in
Google Scholar
PubMed Close

analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development . Journal of Steroid Biochemistry and Molecular Biology 155 147 – 154

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JOE-16-0495
Volume/Issue:
Volume 232: Issue 2
Free access
C J Corbin Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by C J Corbin in
Google Scholar
PubMed Close
,
E L Legacki Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by E L Legacki in
Google Scholar
PubMed Close
,
B A Ball Department of Veterinary Science, Gluck Equine Research Center, University of Kentucky, Lexington, Kentucky, USA

Search for other papers by B A Ball in
Google Scholar
PubMed Close
,
K E Scoggin Department of Veterinary Science, Gluck Equine Research Center, University of Kentucky, Lexington, Kentucky, USA

Search for other papers by K E Scoggin in
Google Scholar
PubMed Close
,
S D Stanley Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by S D Stanley in
Google Scholar
PubMed Close
, and
A J Conley Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by A J Conley in
Google Scholar
PubMed Close

.12.013 ) Revay T Villagomez DA Brewer D Chenier T King WA 2012 GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development . Sexual Development 6 108 – 116 . ( doi:10

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JOE-16-0175
Volume/Issue:
Volume 231: Issue 1
Free access
Alan Conley Department of Population Health & Reproduction, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by Alan Conley in
Google Scholar
PubMed Close
,
Ned J Place Department of Population Medicine and Diagnostic Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA

Search for other papers by Ned J Place in
Google Scholar
PubMed Close
,
Erin L Legacki Department of Population Health & Reproduction, School of Veterinary Medicine, University of California, Davis, California, USA

Search for other papers by Erin L Legacki in
Google Scholar
PubMed Close
,
Geoff L Hammond Department of Cellular & Physiological Sciences, University of British Columbia, Vancouver, British Columbia, Canada

Search for other papers by Geoff L Hammond in
Google Scholar
PubMed Close
,
Gerald R Cunha Department of Urology, University of California, San Francisco, California, USA

Search for other papers by Gerald R Cunha in
Google Scholar
PubMed Close
,
Christine M Drea Departments of Evolutionary Anthropology and Biology, Duke University, Durham, North Carolina, USA

Search for other papers by Christine M Drea in
Google Scholar
PubMed Close
,
Mary L Weldele Departments of Psychology and Integrative Biology, University of California, Berkeley, California, USA

Search for other papers by Mary L Weldele in
Google Scholar
PubMed Close
, and
Steve E Glickman Departments of Psychology and Integrative Biology, University of California, Berkeley, California, USA

Search for other papers by Steve E Glickman in
Google Scholar
PubMed Close

development . Novartis Foundation Symposium 244 136 – 152 ; discussion 152. ( https://doi.org/10.1002/0470868732.ch12 ) Rey RA Grinspon RP 2011 Normal male sexual differentiation and aetiology of disorders of sex development . Best Practice and

Article Type:
Review Article
DOI:
https://doi.org/10.1530/JOE-20-0252
Volume/Issue:
Volume 247: Issue 1
Free access