Cushing’s disease:

Cushing’s syndrome (CS) is a rare endocrine disorder caused by prolonged exposure to an excessive amount of glucocorticoids. Identifying the cause begins with determining whether hypercortisolism is adrenocorticotrophin (ACTH)-dependent (from the pituitary or ectopic sources) or ACTH-independent (from an adrenal source). Cushing’s disease (CD) is the most common cause of endogenous CS and it represents a rare cause of short stature in children and adolescents. The diagnosis of CS is often challenging because most of the symptoms and signs are nonspecific. These symptoms are common in individuals who do not have hypercortisolism (e.g., patients with diabetes, hypertension, or weight gain). Instead, various dermatological manifestations (such as purple striae, easy bruising, and skin atrophy) are more specific to CS. Here, we report a case of a 17-year-old male who presented with progressive weight gain, and dermatological findings consisting of multiple purple striae 1 year prior to referral to our clinic from the dermatology clinic. He had typical features of CS, which were missed by his primary physician.

Case Report:

The patient was a 17-year-old male, who presented at the local health center with skin discoloration over his lower abdomen and upper arms. He had noticed an increase in body weight over the previous 6 months, which was associated with generalized weakness. He was reassured by his primary care physician that the skin discoloration was stretch marks secondary to his increase in weight.

After 6 months, he returned to his primary care physician complaining of back pain, generalized bone pain, additional weight gain, and further skin discoloration. He was then referred to the dermatology clinic for assessment

The patient was seen in the dermatology clinic 6 months later and he was urgently referred to the endocrine clinic to rule out CS because he displayed extensive multiple wide purple skin striae. He was immediately seen in the endocrine clinic, and upon physical examination, he weighed 62 kg (50th centile) (compared to 50 kg 1 year before). At a height of 157 cm, his final estimated target height was 166 cm (~25th centile). With a BMI of 25.2, he was plethoric with a round face, dorsocervical and supraclavicular fat pads, truncal obesity, and extensive purplish wide skin striae over his lower abdomen, arms, and thighs (Figure 3). His blood pressure was normal. He displayed signs of puberty, and his bone age was consistent with his chronological age. His clinical history did not include the use of glucocorticoids, and no family history of endocrine diseases was reported.

There was a marked increase of urinary free cortisol combined with non-suppressible serum cortisol after a low-dose dexamethasone suppression test and a detectable ACTH value, which confirmed a diagnosis of ACTH-dependent CS.

Hormonal laboratory evaluations were as follows:

8 AM cortisol: 904 nmol/L

24 hr urine cortisol values: 642 nmol/d, 853 nmol/d (normal is less than 152 nmol/d)

Cortisol level after a 1-mg dexamthasone suppression test: 369 nmol/L (normal <50 nmol/L)

ACTH: 11.1 pmol/L

The patient also displayed mild polycythemia (hematocrit 52.9%) and dyslipidemia (Table 1). MRI of the pituitary was normal, and we proceeded for a CT of the chest, abdomen, and pelvis to rule out an ectopic source of hypercortisolism, which was negative.

Patient’s laboratory test results

The Patient underwent successful surgery and achieved remission from CD. He will be monitored throughout his life for possible recurrence of the disease.

Conclusion:

Although rare during childhood and adolescence, CS should be considered in the differential diagnosis of pediatric patients presenting with signs of obesity.

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Valentina Rose

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Endocrinology and metabolism: Open Access

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