Endocrine Abstracts

JOINT3662

Introduction: Inherited metabolic disorders (IMDs) are rare genetic diseases that can affect different systems, including the endocrine system. IMDs are classified into three groups according to their mechanisms: cellular intoxication, energy deficit and defects of complex molecules. Endocrine disorders may present in childhood, following diagnosis or in adulthood, before any previous metabolic diagnosis. Data regarding endocrine manifestations in pediatrics is limited. This study aims to describe endocrine manifestations in a cohort of patients with IMDs.

Methods: Demographic, clinical, and laboratory data was collected retrospectively from medical records of patients with IMDs followed at the pediatric unit of metabolic diseases in a tertiary pediatric hospital, between January 2002 and May 2024.

Results: From of a total of 92 patients with an IMD associated with endocrine dysfunction, 25 had identified at least one endocrinological manifestation, of which 14 were male; 5 have died; and current median age of living patients is 13, 5 years (min 3; max 27). The median age of onset of endocrinological manifestations was 5 years (min 2 months; max 15 years). Regarding the main IMDs groups: 14 were from energy deficiency group [10 mitochondrial disorders, 3 MCT8 deficiency, 1 glycogen storage disease type I); 9 from complex molecule group [6 X-linked adrenoleukodystrophy (X-ALD); 3 congenital disorders of glycosylation] and 2 from intoxication group (1 galactosemia; 1 methylmalonic acidemia). In our cohort, we identified: 9 adrenal insufficiency (mainly X-ALD); 7 short stature with IGF1 deficit (2 of them treated with growth hormone); 6 dys/hypothyroidism; 3 premature adrenarche; 2 diabetes mellitus; 2 hypogonadism; 1 hypoparathyroidism; 1 ovarian insufficiency and 1 panhypopituitarism. Most endocrine manifestations occurred during IMDs’ evolution, only 5 occurred as an initial manifestation.

Conclusions: About a quarter of the patients in this 22-year time span cohort had endocrine manifestations. Compared to the only published data including pediatric patients, the prevalence of endocrine manifestations in our cohort was higher and more diverse. This may reveal an increasing awareness of the endocrine involvement or also translate an increasing prevalence. Each case should be individually assessed, and the greater potential for endocrine involvement of some diseases (respiratory chain defects or peroxisomal disorders) should be taken into account to ensure timely referral and intervention.

References: 1. Heald AH, Bassett J, Puente-Ruiz N, Clayton P, Stepien KM. Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long-term management. Clin Endocrinol (Oxf). 2024;101(5):562-568. doi:10.1111/cen.15100

2. Erdöl Ş, Sağlam H. Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases. J Clin Res Pediatr Endocrinol. 2016;8(3):330-333. doi:10.4274/jcrpe.2288