Add to ORKGBackground: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD). Here, we report a patient with a homozygous stop-gain mutation in 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2), in addition to impaired steroidogenesis due to AAD. Case Report: Whole exome sequencing revealed an extremely rare homozygous nonsense mutation in exon 2 of the HSD3B2 gene, leading to a premature stop codon (NM_000198.3: c.15C>A, p.Cys5Ter) in a patient with AAD and premature ovarian insufficiency. Scrutiny of old medical records revealed that the patient was initially diagnosed with CAH with hyperandrogenism and severe salt-wasting shortly ...
Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insuffic...
Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) ...
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hype...
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of ch...
Congenital adrenal hyperplasia is the most frequent cause of adrenal insufficiency and ambiguous gen...
Steroidogenic acute regulatory protein () is a key protein for the intracellular transport of choles...
Autoimmune Addison’s disease (AAD) is defined as primary adrenal insufficiency due to immune-mediate...
Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit ...
Context: 3βHSD2 is a bifunctional microsomal NAD+-dependent enzyme crucial for adrenal and gonad ste...
We present a family with 2 members who received long-term steroid treatment for presumed classic con...
Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The n...
Background: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrena...
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase deficiency,...
Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insuffic...
Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...
Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) ...
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hype...
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of ch...
Congenital adrenal hyperplasia is the most frequent cause of adrenal insufficiency and ambiguous gen...
Steroidogenic acute regulatory protein () is a key protein for the intracellular transport of choles...
Autoimmune Addison’s disease (AAD) is defined as primary adrenal insufficiency due to immune-mediate...
Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit ...
Context: 3βHSD2 is a bifunctional microsomal NAD+-dependent enzyme crucial for adrenal and gonad ste...
We present a family with 2 members who received long-term steroid treatment for presumed classic con...
Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The n...
Background: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrena...
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase deficiency,...
Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insuffic...
Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation...
Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90 %...