Diagnosis of Cushing's Disease in an Adolescent Male

Diagnosis of Cushing's Disease in an Adolescent Male



Husain Radhi Taha*, Eman Ebrahim Albasri, Ebtihal Alyusuf and Fatema Khamdan

Department of Endocrinology, Salmaniya Medical Complex, Ministry of Health, Bahrain




Endocrinology and Metabolism journal



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.



Endogenous CS results from either ACTH-dependent or ACTHindependent causes. CD which results from the autonomous secretion of ACTH by a corticotroph adenoma of the pituitary gland is the cause of CS in more than two-thirds of patients [1].


CD presents more frequently in women compared to men and it more often occurs between the ages of 20 and 40 (except for prepubertal children for whom CD predominates in boys) [2].

Common nonspecific features of CS include obesity, hypertension, diabetes, and menstrual irregularities. Moreover, truncal obesity, ecchymoses, plethora, wide purple striae, proximal muscle weakness, and osteoporosis are useful discriminant indices for CS [3]. Growth failure and weight gain are frequently observed in pediatric patients suffering from ACTH-dependent hypercortisolism, while in ACTH-independent CS, the secretion of adrenal androgens may lead to an acceleration of bone aging and eventually compromise growth potential [4]. Early diagnosis and successful treatment of CS avoid the stunted linear growth associated with prolonged childhood disease.


The diagnosis of CD is based on biochemical testing, and the disease is defined by excess levels of glucocorticoids. The initial test includes assessing overnight dexamethasone suppression, 24-hour urine-free cortisol (UFC), and late-night salivary cortisol. All three tests have similar diagnostic utility. The 24-hour UFC and salivary cortisol tests should be performed at least twice to ensure the reproducibility of results [3].


Once ACTH-dependent CS is confirmed biochemically, a pituitary MRI is typically obtained. If no pituitary tumor or a tumor less than 6 mm is visualized, an inferior petrosal sinus sampling (IPSS) is recommended before exploratory pituitary surgery.


Trans-sphenoidal selective adenomectomy is the most widely accepted primary therapy for pituitary-dependent CD. When performed by a specialist neurosurgeon, long-term remission rates up to 70% can be achieved [4]. Ultimately, the successful treatment of CD is associated with normal long-term survival [5].


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. 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.



Adrenocorticotrophic Hormone; Cortisol; Cushing’s syndrome; Hyperpigmentation; Striae; Bruise


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CS: Cushing’s syndrome; CD: Cushing’s disease; ACTH: Adrenocorticotrophic hormone; IPSS: Inferior petrosal sinus sampling; BMI: Body mass index; MRI: Magnetic resonance imaging; SIADH: Syndrome of inappropriate antidiuretic hormone secretion



Taha HR, Albasri EE, Alyusuf E, Khamdan F (2019) Diagnosis of Cushing’s disease in an adolescent male: A case report. Endocrinol Metab Vol.3 .No.1:113.



© 2019 Taha HR, et al. This is an open-access article distributed under the terms of the creative commons attribution license, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

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