BSPED2024 Poster Presentations Gonadal, DSD and Reproduction 1 (6 abstracts)
1Health Education and Improvement Wales, Cwmbran, United Kingdom; 2Health Education and Improvement Wales, Cardiff, United Kingdom; 3Hywel Dda University Health Board, Carmarthen, United Kingdom; 4Aneurin Bevan University Health Board, Newport, United Kingdom; 5Cardiff and Vale University Health Board, Cardiff, United Kingdom
Introduction : Accidental exposure to transdermal hormone-containing products can cause significant adverse effects in children. Hormone replacement therapy (HRT) is widely used in both women and men. Transdermal administration of oestrogen- or testosterone-containing products via transdermal patch, gel, sprays or creams are increasingly used. The MHRA (2023) and FDA (2009) warned of the risk of harm to children following accidental exposure to topical testosterone gel. We report 3 recent cases from South Wales.
Case 1 : A 3-year-old girl presented with features of virilisation: clitoromegaly (2 cm), pubarche (B1P2A1), tall stature (99.8th centile, height velocity 11 cm/year), and recent aggression. Investigations revealed a testosterone level (3.4nmol/l) with no features of pituitary gonadal axis activation. Urine processed at Drug Control Centre from Kings College London confirmed exogenous testosterone which was from the contact exposure of paternal testosterone gel. After avoidance of exposure, virilisation did not progress and testosterone levels normalised.
Case 2 : A 3-year-old girl was reviewed for recent growth acceleration (height velocity 8.4 cm/year), thelarche (B2), adrenarche and mood swings. Investigations revealed oestradiol levels at 194 pmol/l with a prepubertal response on GnRH stimulation test. Her bone age was advanced by 2years and uterine volume was 2.4ml with ovarian volumes 3.9mm and 3.1mm. Unintentional exposure to maternal oestradiol gel (HRT), once removed no clinical progression and the oestradiol levels are undetectable.
Case 3 : A 7-year-old boy presented with gynaecomastia and pubarche: Tanner stage B2P2A1 and G1, testicular volume 3ml bilaterally. He also had acceleration in growth (9 cm/year). Oestradiol level was raised at 186 pmol/l, with prepubertal LH and FSH levels. He had a normal karyotype 46XY with no mullerian structures on ultrasound. Findings were secondary to exogenous exposure to maternal transdermal oestradiol spray (HRT). After exposure eliminated, the oestradiol levels became undetectable.
Conclusion : This report aims to emphasise the risk of unintentional sex steroid exposure during childhood. These cases highlight physical changes but there is also a psychological effect on the child and parents who often have feelings of guilt. Prescribers of topical HRT often GPs have a responsibility to highlight risk and mitigation measures. Where exposure has occurred, early recognition and removal of exposure is critical.