Endocrine Abstracts

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Here we describe families with a novel association of AI with porphyria caused by biallelic mutations in protoporphyrinogen oxidase (PPOX) or coproporphyrinogen oxidase (CPOX). The porphyrias are a group of disorders caused by defects in one of eight enzymes within the haem biosynthetic pathway, divided into acute porphyrias, resulting in mainly n...

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Acute porphyria attacks can also be serious, resulting in permanent disability or death and symptoms can be similar to AI. Previous literature describing hormonal perturbations in porphyria suggest an association between the two conditions. We were referred a family with 4 individuals with porphyria and AI, the clinical picture included global developmental delay, ...