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Last Updated: 10/31/2025

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Found 1274 publications

Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review.

Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review.

Journal: Journal of clinical research in pediatric endocrinology
Published: July 29, 2025

Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency.

Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 19, 2025

Glucocorticoid resistance syndrome: A systematic review of the genotypes, phenotypes, and their relationships.

Glucocorticoid resistance syndrome: A systematic review of the genotypes, phenotypes, and their relationships.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Published: July 15, 2025

The Current Treatment Landscape for Congenital Adrenal Hyperplasia.

The Current Treatment Landscape for Congenital Adrenal Hyperplasia.

Journal: Drugs
Published: July 14, 2025

Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.

Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.

Journal: Diseases (Basel, Switzerland)
Published: July 12, 2025

Recurrent Hyponatremia Mimicking Syndrome of Inappropriate Antidiuretic Hormone Secretion: A Case of Partial Empty Sella Syndrome With Isolated Adrenocorticotropic Hormone Deficiency.

Recurrent Hyponatremia Mimicking Syndrome of Inappropriate Antidiuretic Hormone Secretion: A Case of Partial Empty Sella Syndrome With Isolated Adrenocorticotropic Hormone Deficiency.

Journal: Cureus
Published: July 11, 2025

Stroke-like presentation of a small tuberculum sellae meningioma unmasked by corticosteroid use: A case report.

Stroke-like presentation of a small tuberculum sellae meningioma unmasked by corticosteroid use: A case report.

Journal: Radiology case reports
Published: July 09, 2025

Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency.

Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 09, 2025

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.

Journal: The Journal of clinical endocrinology and metabolism
Published: July 08, 2025

Nonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report.

Nonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report.

Journal: Cureus
Published: July 03, 2025

46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.

46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.

Journal: Endocrine journal
Published: June 22, 2025

One Case of Sudden Isolated Adrenocorticotropic Hormone (ACTH) Deficiency Diagnosed Based on Repeated Hypoglycemic Attacks.

One Case of Sudden Isolated Adrenocorticotropic Hormone (ACTH) Deficiency Diagnosed Based on Repeated Hypoglycemic Attacks.

Journal: Cureus
Published: June 16, 2025
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Last Updated: 10/31/2025