Rare Endocrinology News

Spotlight On

Cushing's syndrome

Cushing's syndrome is the collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol

Prevelance

1-9 / 100 000

3,310 - 29,790

US Estimated

5,135 - 46,215

Europe Estimated

Age of Onset

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ICD-10

E24.0
E24.1
E24.2
E24.3
E24.4
E24.8
E24.9

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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Rare View

Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face, a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals poorly.

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5 Facts you should know

FACT

1

Symptoms include rapid weight gain, particularly of the trunk and face with sparing of the limbs (central obesity)

FACT

2

Common signs include the growth of fat pads along the collarbone, on the back of the neck ("buffalo hump" or lipodystrophy), and on the face ("moon face")

FACT

3

It most commonly affects people who are 20 to 50 years of age

FACT

4

Women are affected three times more often than men

FACT

5

Affected women may also experience irregular menstrual periods and increased growth of body and facial hair

Cushing's syndrome is also know as...

Cushing's syndrome

Hypercortisolism; Nodular primary adrenocortical dysplasia; Adrenal cortex adenoma; Ectopic ACTH syndrome; Ectopic adrenocorticotropic hormone syndrome

What’s your Rare IQ?

Cushing's syndrome can also occur in domesticated animals. Which of the following animals has not been reported to have cases of Cushing's syndrome?

Common signs & symptoms

Abnormal subcutaneous fat tissue distribution

 Abnormal fat tissue distribution below the skin

Erectile dysfunction

Erectile abnormalities

Growth delay

Growth deficiency

Round face

Round facial appearance

Bruising susceptibility

Thin skin

Truncal obesity

Acne

Current treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Mifepristone

(Brand name: Korlym) Manufactured by Corcept Therapeutics, Inc.
FDA-approved indication: Korlym is approved for use in patients with endogenous Cushing's syndrome who have type 2 diabetes or glucose intolerance and are not candidates for surgery or have not responded to prior surgery.

Pasireotide

(Brand name: Signifor) Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: June 2018, approved for the treatment of patients with Cushing’s disease for whom pituitary surgery is not an option or has not been curative. Also, December 2014, approved for the treatment of patients with acromegaly who have had an inadequate response to surgery and/or for whom surgery is not an option.

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsMore Information
Roll-over Study in Patients With Endogenous Cushing's Syndrome for LCI699The purpose of this study is the evaluation of long-term safety of osilodrostat in patients who have already received osilodrostat treatment in a previous Global Novartis-sponsored trial and who, based on investigators' judgement, will continue benefiting with its administration.

Phase 2RecruitingDrug: osilodrostatClick here for more information
Extension Study to Evaluate the Safety of Long-Term Use of Relacorilant in Patients With Cushing SyndromeThis study is designed to allow continued therapy with relacorilant, a potent, selective glucocorticoid receptor (GR) antagonist in patients who have successfully completed participation of a Corcept-sponsored study of relacorilant (referred to as the "parent" study)Phase 2Enrolling by invitationDrug: relacorilantClick here for more information
A Study of the Efficacy and Safety of Relacorilant in Patients With Endogenous Cushing SyndromeThis is a Phase 3, double-blind, placebo-controlled, randomized-withdrawal study to assess the efficacy, safety and pharmacokinetics (PK) of relacorilant in patients with endogenous Cushing syndrome and concurrent type 2 diabetes mellitus/impaired glucose tolerance and/or uncontrolled hypertensioPhase 3RecruitingDrug: Relacorilant|Other: PlaceboClick here for more information
Open-label Treatment in Cushing's SyndromeThis is a long-term, open-label extension study of levoketoconazole in subjects with endogenous Cushing's Syndrome.Phase 3Active, not recruitingDrug: LevoketoconazoleClick here for more information
Efficacy and Safety of Relacorilant in Patients With Cortisol-Secreting Adrenal AdenomasThis is a Phase 3, randomized, double-blind, placebo-controlled study to assess the efficacy, and safety of relacorilant to treat hypercortisolism in patients with cortisol-secreting adrenal adenoma or hyperplasia associated with diabetes mellitus/ impaired glucose tolerance and/or uncontrolled systolic hypertension.Phase 3RecruitingDrug: relacorilant|Other: PlaceboClick here for more information

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
OsilodrostatA cortisol synthesis inhibitor indicated for the treatment of adult patients with Cushing’s diseasePhase 2Novartis PharmaceuticalsClick here for more informationClick here for more information
RelacorilantRelacorilant is an orally available antagonist of the glucocorticoid receptor (GR).Phase 3Corcept TherapeuticsClick here for more informationClick here for more information

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov