Endocrine Abstracts

Introduction: Substrate accumulation, energy deficiency or complex molecule defects characterize inherited metabolic disorders (IMDs), accounting for their multi-system manifestations. One important aspect of this is endocrinopathy, which is relatively common but underestimated in IMDs, presenting in childhood following diagnosis or sometimes a presenting symptom in adults where there is multi-system or multi-gland involvement. Endocrinopathies may be secondary to treatment (eg chemotherapy used for Hematopoietic Stem Cell Therapy (HSCT)). Given the physical and psychological burden of these conditions and the advent of new treatments for IMDs, it is important that clinicians are aware of endocrine manifestations of IMDs and their management.

Methods: Individuals were reviewed in our joint supra-regional endocrinology/metabolic clinic. The hospital digital care record and national summary care record was used to review diagnoses, endocrine manifestations, blood results, imaging and treatment.

Results: 36 people were reviewed in the combined endocrine/metabolic clinic; 19 were female and 17 were male. The most common groups of metabolic conditions represented were disorders of carbohydrate metabolism (n=7), fatty acid disorders (n=6) lysosomal storage disorders (n=6) and mitochondrial disorders (n=4). The most common endocrine complication was primary or secondary hypogonadism (n=22) followed by thyroid disorder (hypo/hyperthyroidism or thyroiditis) (n=5), diabetes T1/T2 (n=4) and adrenal insufficiency (n=4). 8 individuals had 2 or more endocrine complications. In all, 25 individuals received specific endocrine treatments.

Discussion: This study highlights the utility of hormonal profiling of IMD patients in general metabolic clinics with subsequent referral to a specialist joint endocrine/metabolic clinic. Endocrine problems account for significant morbidity so early identification can identify treatable complications. Hormonal dysfunction may also be the first sign of an IMD, such is in our cohort (X-linked adrenoleukodystrophyand Lesch-Nyhan). IMDs should also be considered where a patient presents with an endocrinopathy and multi-system or multi-glandular involvement.