Endocrine Abstracts

Introduction: This case series consist of three brothers who are aged 24, 27 and 28. The eldest brother was diagnosed with CAH at 18 days when he presented with poor weight gain, vomiting and persistent jaundice with hyponatraemia. The parents received genetic counselling for the next two pregnancies and all three children were managed with hydrocortisone and fludrocortisone maintainence therapy. They were closely monitored for their growth rates, signs of precocious puberty and any preciptious weight gain during their childhood.

Recurrent admissions: Their care were transferred from paediatric endocrinologists to the adult service since 2016. From 2016-2024, there were more than 28 acute admissions between the 3 brothers. They often present with gastrointestinal symptoms such as recurrent vomitting, abdominal pain and most of them were treated for gastroenteritis with addisonian crisis. None of them wore a steroid alert bracelet nor carry a steroid emergency card and we noted that their emergency steroid ampules sometimes expired. Repeated counselling were held with the patients and their families to highlight the importance of the above issues and sick day rules. At times there were delays with fluid and intravenous hydrocortisone treatment due to London Ambulance Service having limited understanding of CAH. We created an emergency plan to notify these 3 brothers to the ambulance service to ensure timely treatment will be given in future cases.

Routine monitoring and symptoms management : Testicular screening and Vitamin D levels with bone density scans were regularly carried out. Their weights were monitored with periodic steroid day curves to ensure there was no over-replacement of cortisol. We provide regular counselling regarding health and lifestyle choices to avoid the development of metabolic syndrome. Secondary hypogonadism was managed with a trial of testosterone replacement therapy. Patients were referred to reproductive endocrinologist or a fertility specialist early, whilst checking sperm count and discussing possibility of sperm cryopreservation.

Conclusion: A MDT approach is crucial in supporting paediatric CAH patients transitioning to adult services. The team involves paediatric endocrinologists, geneticists, endocrinologists, fertility specialists, dietitians, physiotherapists and the local ambulance service. In this case we highlight the importance of clear communication between teams to support the early recognition and treatment of adrenal crisis in adults prior to admission. Following the establishment of emergency care plan, the family of 3 brothers are able to receive their treatment in a timely matter and potentially reduce their length of stay at the hospital.