Primary adrenal insufficiency is life threatening and can present alone or in combination with
other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and …

The adolescent period is characterised by fundamental hormonal changes, which affect sex
steroid production, cortisol metabolism and insulin sensitivity. These physiological changes …

Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal
recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic …

Objective Despite published guidelines no unified approach to hormone replacement in
congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and …

Context No consensus exists for optimization of mineralocorticoid therapy in patients with
primary adrenal insufficiency. Objective To explore the relationship between …

Background Monitoring of hormonal control represents a key part of the management of
congenital adrenal hyperplasia (CAH). Monitoring strategies remain suboptimal because …

Background Although congenital adrenal hyperplasia (CAH) is known to be associated with
adrenal crises (AC), its association with patient-or clinician-reported sick day episodes …

Objectives International guidelines recommend additional salt supplementation during
infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency …

Objective There is limited knowledge on the onset of comorbidities in congenital adrenal
hyperplasia (CAH) during childhood. We aimed to establish the health status of children with …

Objective Androgen excess in childhood is a common presentation and may signify sinister
underlying pathology. Data describing its patterns and severity are scarce, limiting the …