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Hi Mohammad, Thanks for your feedback. The parents denied any exogenous testosterone use. Kind regards, Joyce On 27/04/2012, at 9:17 PM, Mohammad Al-Jubouri <[log in to unmask]> wrote: > Hi Joyce, > > This is really a puzzling case that doesn't follow a known pathophysiology of androgen disorder. The fluctuating testosterone level is unpredictable and unexplainable other than by possible exogenous exposure. Is the father using testogel? > > Best regards > > Mohammad > > Dr. M A Al-Jubouri, MB ChB, MSc, FRCP Edin, FRCPath > Consultant Chemical Pathologist > From: Joyce Wu <[log in to unmask]> > To: [log in to unmask] > Sent: Friday, April 27, 2012 2:19 AM > Subject: Puzzling paediatric endocrine patient > >> Dear Colleagues, >> We have a paediatric endocrine patient at the moment that is puzzling us all. I am posting her details on behalf of the treating endocrinologist in the hope that someone might have more ideas/suggestions on her diagnosis. >> The summary is a 4 and a half yr old girl with a 2 year history of progressive pubic hair, growth acceleration, and bone age advancement that is associated with an isolated elevation in testosterone. Karyotype is 46 XX (SRY negative). The unusual biochemical feature is that the DHEAS was not elevated. Urinary steroid profile only showed an elevation in testosterone and its metabolites. Synacthen did not increase the testosterone and dexamethasone did not suppress the testosterone. HCG stimulation resulted in a 3.5 fold increase in androstenedione and testosterone. Imaging studies have not revealed any abnormalities of the ovaries, adrenals or liver. Tumour markers are negative. Laparoscopy revealed normal ovaries. The parents deny exposure to exogenous androgen. (Attached is a PowerPoint if you require more details). >> Any ideas would be greatly appreciated. >> Thanks. >> Kind regards, >> Joyce >> Joyce Wu >> MBBS MAACB FRCPA (Chemical Pathology) >> Biochemical Genetics Registrar >> Clinical Chemistry >> Mater Pathology >> Level 6 MAH || Raymond Tce || South Brisbane || Qld 4101 >> t: (07) 3163 3709 e: [log in to unmask] >> m: 0403 530 676 >> f: (07) 3163 8338 w: www.mater.org.au >> >> >> This e-mail, together with any attachments, is confidential and intended for the named recipient(s) only. If you are not the intended recipient or have received this message in error, you are asked to immediately notify the sender and delete this message and any copies of this message from your computer system network and destroy any printed copies of this email. Any form of unauthorised disclosure, modification, distribution, publication or use of this e-mail message is prohibited. > ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk Green Laboratories Work http://www.laboratorymedicine.nhs.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/ > > ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk Green Laboratories Work http://www.laboratorymedicine.nhs.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/ > > ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk Green Laboratories Work http://www.laboratorymedicine.nhs.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/