Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Sept 2002

Nies C, Bartsch D K, Ehlenz K, Wild A, Langer P, Fleischhacker S, Rothmund M

Abstract excerpt

Primary adrenal hyperplasia, which may occur as a familial disorder, is a rare cause of ACTH-independent Cushing's syndrome. In most of these cases the underlying pathology is primary adrenocortical micronodular dysplasia. Very few cases of familial Cushing's syndrome due to primary macronodular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Adrenocorticotropic Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cushing Syndrome

Share to Dexamethasone

Share to Family Health

Share to Hydrocortisone

Share to Multiple Endocrine Neoplasia Type 1

Share to Pedigree

Source

Identifiers

PMID: 12373631
DOI: 10.1055/s-2002-34590

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12373631-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members.PMID 12373631Read ↗

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.Semantic proximity Read ↗

Genetics of primary macronodular adrenal hyperplasia.Semantic proximity Read ↗

Clinical and Genetic Analysis of Primary Bilateral Adrenal Diseases (Micro- and Macronodular Disease) Leading to Cushing SyndromeSemantic proximity Read ↗

Genetic basis of bilateral macronodular hyperplasia.Semantic proximity Read ↗

Update on primary micronodular bilateral adrenocortical diseasesSemantic proximity Read ↗

Diagnosis and management of primary bilateral macronodular adrenal hyperplasiaSemantic proximity Read ↗

Genetics of primary macronodular adrenal hyperplasia.Semantic proximity Read ↗

Cushing's syndrome in early infancy due to isolated sporadic bilateral micronodular adrenocortical disease associated with myosin heavy chain 8 mutation: diagnostic challenges, too many!Semantic proximity Read ↗

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlationSemantic proximity Read ↗

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?Semantic proximity Read ↗

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Semantic proximity Read ↗

Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.