Organic Hypercortisolism of Childhood: Adrenal Cushing’s Syndrome

CASE DESCRIPTION

The picture is of a 12-month-old child who was brought to the hospital by his parents with complaints of excessive weight gain over the last 4 months associated with poor appetite, sleeplessness, and irritability (Fig. 1).

He was diagnosed to have CS secondary to a mixed-secreting left adrenal tumor which was reported as Adrenocortical carcinoma on histopathological examination, Wieneke score – 3 (borderline) (Fig. 2).

We present this child with the classical features of CS due to a mixed tumor (cortisol and testosterone secreting adenoma) normalizing within 5 days of laparoscopic adrenalectomy and also the feasibility of laparoscopic adrenalectomy in a child under the age of 1 year (Figs 3 and 4).

DISCUSSION

Cushing’s syndrome is a rare entity in children with the incidence being 2–5/10,00,000 per year. The most common cause of CS in children is iatrogenic (exogenous administration).¹

Adrenocortical tumors are rare in childhood accounting for only 0.3–0.4% of all neoplasms in this age group. Yet, in children less than 7 years of age, adrenal pathologies [adenoma, carcinoma, adrenocorticotropic hormone (ACTH) independent adrenal macronodular hyperplasia, and primary pigmented nodular hyperplasia] are the most common causes of CS whereas in those more than 7 years old, Cushing’s disease constitutes the maximum chunk of cases.²

The most common presenting feature of CS in children that distinguishes them from adults is the “linear height deceleration with concomitant weight gain.” Height and body mass index (BMI) standard deviation scores (SDS) help differentiate children with CS from those with simple obesity.¹

Other signs noted in pediatric Cushing’s are facial plethora, lanugo-like hair, hirsutism, moon facies, supratemporal and supraclavicular fat pads, central obesity, violaceous striae over trunk, sleeplessness, irritability, fatigue, and hypertension.²

As in adults, to establish the diagnosis of Cushing’s, hypercortisolism should be documented by screening first, either by 24-hour urinary free cortisol or late-night salivary cortisol followed by confirmation by a low-dose dexamethasone-suppression test.

Once the diagnosis of Cushing syndrome is confirmed, investigations to distinguish ACTH-dependent disease from the ACTH-independent disease should be done. Surgical intervention is the first line of treatment for such adrenal lesions.¹

Children with adrenocortical carcinomas usually have germline p53 mutations. The prognosis of adrenocortical carcinoma in children is very variable and difficult to predict in clinical practice, with the 5-year survival rate being 30–70% and below 20% in metastatic disease.³

ORCID

Sabaretnam Mayilvaganan https://orcid.org/0000-0002-2621-394X

REFERENCES

1. Lodish MB, Keil MF, Stratakis CA. Cushing’s syndrome in pediatrics: An update. Endocrinol Metab Clin North Am 2018;47(2):451–462. DOI: 10.1016/j.ecl.2018.02.008.

2. Chan LF, Storr HL, Grossman AB, et al. Pediatric Cushing’s syndrome: Clinical features, diagnosis, and treatment. Arq Bras Endocrinol Metabol 2007;51(8):1261–1271. DOI: 10.1590/s0004-27302007000800012.

3. Miele E, Di Giannatale A, Crocoli A, et al. Clinical, genetic, and prognostic features of adrenocortical tumors in children: A 10-year single-center experience. Front Oncol 2020;10:554388. DOI: 10.3389/fonc.2020.554388.