Dear All,
I was hoping to get a collective opinion on a very strange case we have currently at Alder Hey Children’s Hospital.
Our Endocrine team are investigating a young boy with central precocious puberty. The child is clinically exhibiting aggressive behaviour, a significant growth spurt (bone age +5.6 years) and other pubertal symptoms. However, we have found no cause; he has had a normal adrenal USS, brain MRI, no evidence of CAH, normal urine steroid profile and all other biochemical/endocrine investigations.
He was started on a GNRH analogue and due to his global developmental delay and autism, at his follow-up appointment he was monitored via a finger-prick sample. On this 9 am capillary sample the testosterone measured >55 nmol/L (confirmed by 1/10 dilution via immunoassay). We sent the sample for analysis via LCMS/MS, due to concerns about interference, and the referral lab reported a testosterone of 798 nmol/L and androstenedione of 11.1 nmol/L.
We requested an urgent plasma sample, which was collected the same day at 11 am, the results were: testosterone: 5.6 nmol/L (immunoassay) and 7.6 nmol/L (LCMS) and androstenedione: 1.4 nmol/L (LCMS).
The Endocrine team are waiting to start him on a testosterone receptor agonist and anastrozole, so have since repeated these investigations twice. Each time the capillary testosterone is raised higher than we believe is physiologically possible and the plasma, though still abnormal for age, is much lower. Has anyone ever seen anything like this before?
At this point we are having to consider whether accidental or intentional exposure to high levels of testosterone (e.g. from a topical Androgel) has caused testotoxicosis and driven his central precocious puberty. Before we go down the route of suggesting Munchausen’s by proxy, and involving the safeguarding team, I wondered if anyone can suggest a way to differentiate endogenous from exogenous testosterone?
Please feel free to email me directly. I have further details of his endocrine results and clinical history but I didn’t want to overload this email (any more than I already have!).
Many thanks,
Laura Walker
Senior Clinical Biochemist
Pathology R&D Coordinator
Department of Pathology
Alder Hey Children’s Hospital
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