Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia.

Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: report of a case.

Familial adenomatous polyposis (FAP) patients develop various extracolonic lesions, among which functional adrenocortical neoplasms are infrequent. A 44-year-old woman was hospitalized because of pseudo-Meigs' syndrome, caused by bilateral ovarian metastases from an advanced ascending colon cancer due to FAP of intermediate type. Furthermore, bilateral adrenocortical adenomas were detected, and functional analyses showed a hormonal secretion pattern consistent with Cushing's syndrome. She underwent a right hemicolectomy with extirpation of bilateral ovaries. At 10 months post-operative with no detectable metastatic lesions, the residual colorectum and the larger, left adrenal gland were resected, and the hormonal hypersecretion was normalized. Direct sequencing of the adenomatous polyposis coli (APC) gene revealed a nonsense germline mutation at codon 1577 and an additional nonsense somatic mutation at codon 554 in cancer tissues. Biallelic APC inactivation due to loss of the normal allele was evident in the adrenocortical adenoma. There were no hypermethylated CpG islands detected in APC promoter regions. Immunostaining for beta-catenin revealed diffuse cytoplasmic expression in resected tissues including adrenocortical adenoma. Biallelic APC inactivation may play a role in developing cortisol-secreting adrenocortical adenoma in FAP patients. It is noteworthy that biallelic APC inactivation was caused in different ways in different tumors from the same individual.

Prenatal sonographic findings of congenital adrenal cortical adenoma.

The differential diagnosis of prenatally diagnosed adrenal masses includes neuroblastoma, adrenal hemorrhage, adrenal and cortical renal cysts, adrenal adenoma and carcinoma, subdiaphragmatic pulmonary sequestration, Beckwith-Wiedemann syndrome, duplication of the renal system, Wilms tumors, congenital mesoblastic nephroma, and mesenteric and enteric duplication cysts. The worldwide annual incidence of childhood adrenal cortical neoplasms ranges between 0.3 and 0.38 per 1 million children younger than 15 years. These neoplasms are even more unusual among infants, with only 23 cases reported in the literature.

Congenital adrenocortical adenoma: case report and review of literature.

Congenital ardrenocortical neoplasms are exceedingly rare. Our review of the medical literature revealed 23 reported cases of adrenocortical neoplasm including this one. Eighteen of these cases were adrenocortical carcinoma and four were grouped as adrenocortical tumor. We have not found any reported case with a histological diagnosis of a congenital adrenocortical adenoma. We present this case of a congenital adrenocortical neoplasm with histological findings consistent with an adrenocortical adenoma in a premature infant aged 27 weeks and 4 days who had a prenatal sonogram showing a cystic right abdominal mass and a physical examination demonstrating a palpable mass.