Cushing syndrome due to ectopic ACTH secretion

What it is

From: Orphanet

A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by the secretion of ACTH by non-pituitary neuroendocrine tumors (NETs) of various locations and various degrees of histological differentiation and aggressiveness.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Diabetes mellitus · Very frequent (99-80%)

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Fatiguable weakness of proximal limb muscles · Very frequent (99-80%)

A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.

Increased circulating ACTH level · Very frequent (99-80%)

An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.

Increased circulating cortisol level · Very frequent (99-80%)

Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.

Increased urinary cortisol level · Very frequent (99-80%)

Abnormally increased concentration of cortisol in the urine.

Paradoxical increased cortisol secretion on dexamethasone suppression test · Very frequent (99-80%)

Abdominal obesity · Frequent (79-30%)

Excessive fat around the stomach and abdomen.

Abnormal libido · Frequent (79-30%)

Any deviation from the normal sexual drive or desire for sexual activity.

Abnormality of the cardiovascular system · Frequent (79-30%)

Any abnormality of the cardiovascular system.

Acne · Frequent (79-30%)

A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).

Adrenal hyperplasia · Frequent (79-30%)

Enlargement of the adrenal gland.

Amenorrhea · Frequent (79-30%)

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.

Anxiety · Frequent (79-30%)

Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.

Asthenia · Frequent (79-30%)

A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.

Other findings in the same source

From: Orphanet

Additional reported features include Atypical behavior (Frequent (79-30%)); Bruising susceptibility (Frequent (79-30%)); Capillary fragility (Frequent (79-30%)); Decreased eosinophil count (Frequent (79-30%)); Dorsocervical fat pad (Frequent (79-30%)); Ecchymosis (Frequent (79-30%)); Emotional lability (Frequent (79-30%)); Hirsutism (Frequent (79-30%)); Hyperpigmentation of the skin (Frequent (79-30%)); Hypertension (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult; Elderly

Inheritance in the source

From: Orphanet

Not applicable

Which doctor should you see?

The suggested department for discussing Cushing syndrome due to ectopic ACTH secretion is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Cushing syndrome due to ectopic ACTH secretion. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.