Diagnosis of adrenocortical tumor in a neonate by detection of elevated blood 17-hydroxyprogesterone measured as a routine neonatal screening for congenital adrenal hyperplasia: a case report

Hishiki, Tomoro; Kazukawa, Itsuro; Saito, Takeshi; Terui, Keita; Mitsunaga, Tetsuya; Nakata, M.; Matsuura, Gen; Minagawa, Masahiro; Kohno, Yoichi; Yoshida, Hideo

doi:10.1016/j.jpedsurg.2008.05.023

Cited by 8 publications

(7 citation statements)

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“…Three of these patients are alive with no evidence of disease (at 3 years, 18 years and 38 years of age), 1 died at 10 years, and outcome was not known on the remaining 3 patients. Previous reports have suggested favorable outcomes after treatment in infantile ACC [30, 31, 33]. A newborn girl had spontaneous regression of skin metastases and cerebral lesion by 4 months of age following surgical resection of right adrenal primary tumor [29].…”

Section: Discussionmentioning

confidence: 99%

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

et al. 2018

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Background/Aims: Adrenocortical carcinoma (ACC) is an aggressive childhood cancer. Limited evidence exists on a definite histopathological criterion to differentiate ACC from adrenocortical adenoma. The aim of this study was to investigate the clinicopathological data of children with ACC, identify prognostic factors, and validate a histopathological criterion to differentiate ACC from adrenocortical adenoma. Methods: This retrospective cohort included 41 children, followed at the Mayo Clinic from 1950 to 2017 (onset of symptoms ≤21 years). Outcomes of interest were: alive with no evidence of disease, alive with evidence of disease, and dead of disease. Results: Median age at onset of symptoms was 15.7 years (n = 41; range, 0.2–21 years). Female:male ratio was 3.6: 1. Mixed symptomatology (> 1 hormone abnormality) was the most common presentation (54%, n = 22). Sixty-six percent of patients (n = 27 out of 41) underwent total adrenalectomy. Metastatic disease was more common in children aged > 12 years (p = 0.002 compared to < 4 years). The most common sites of metastases were the liver and lungs. Overall 2-year and 5-year survival rates were 61% (95% CI 45–77) and 46% (95% CI 30–62), respectively. Metastasis at the time of diagnosis was independently associated with poor prognosis (risk ratio 13.7%; 95% CI 3.9–87.7). Weiss criteria (29%) and modified Weiss criteria (33%) were less accurate in younger patients (< 12 years), compared to the Wieneke index (100%). Conclusion: The presence of metastases was an independent prognostic factor. The Wieneke index was the most accurate in predicting clinical outcomes in younger children.

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Section: Discussionmentioning

confidence: 99%

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

et al. 2018

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“…Other than 21-OHD, the serum 17-OHP level can be elevated in preterm birth, very early postnatal period, other types of CAH, adrenal tumors, and syndromes with overgrowth ( 27 , 28 , 29 , 74 , 75 ). In preterm neonates, the residual fetal cortex, in which 21-hydroxylase is expressed at a low level, leads to increased 17-OHP synthesis compared to that in full-term neonates.…”

Section: Diagnosismentioning

confidence: 99%

“…Although its prevalence is extremely rare, syndromes with overgrowth or adrenal gland tumors can be detected by neonatal mass screening because of high 17-OHP levels ( 74 , 75 ). A retrospective study of 0.3 million neonates who underwent screenings for 15 years reported that two of the nine full-term infants born with large-for-gestational-age who exhibited high 17-OHP levels were diagnosed with syndromes with overgrowth (one Beckwith-Wiedemann syndrome and one Perlman syndrome).…”

Section: Diagnosismentioning

confidence: 99%

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Ishii¹,

Kashimada²,

Amano

et al. 2022

Clin Pediatr Endocrinol

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. Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989. On behalf of the Japanese Society for Pediatric Endocrinology, the Japanese Society for Mass Screening, the Japanese Society for Urology, and the Japan Endocrine Society, the working committee updated the guidelines for the diagnosis and treatment of 21-hydroxylase deficiency published in 2014, based on recent evidence and knowledge related to this disorder. The recommendations in the updated guidelines can be applied in clinical practice considering the risks and benefits to each patient.

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“…This mismanagement was partly due to the higher incidence of CAH and partly because of the misconception that 17-OH progesterone is a specific marker for CAH, while the metabolite may be highly elevated in adrenocortical tumors and also in hormone-secreting testicular tumors as well (21,22). In the case reported by Hishiki et al (23), high serum 17(OH) progesterone that was used for evaluation of CAH led to diagnosis of adrenocortical tumor in a newborn. We therefore propose that adrenocortical tumors be considered in the differential diagnosis of hyperandrogenism in children.…”

Section: Discussionmentioning

confidence: 99%

Functioning Adrenocortical Tumors in  Children-Secretory Behavior

Ghazi¹,

Mofid²,

Salehian³

et al. 2013

Jcrpe

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Objective: Adrenocortical tumors are rare childhood neoplasms. More than 95% are functional and present with virilization, Cushing’s syndrome, hypertension, or hyperestrogenism. The objective of this paper is to present the clinical, laboratory and pathological findings of this rare disease and to highlight the secretory behavior of these tumors.Methods: Clinical and laboratory data of seven Iranian children and adolescents aged between 2 and 16 years with functioning adrenocortical tumors are presented. Five patients had virilization and two had Cushing’s syndrome at the time of diagnosis. In all subjects, the tumors were removed successfully by open surgery, during which a blood sample was drawn from the corresponding adrenal vein for hormonal evaluation.Results: Peripheral blood evaluation revealed that in addition to the dominant hormone (testosterone in the cases presenting with virilization and cortisol in those with Cushing’s syndrome), significant amounts of other hormones were secreted from these tumors. Adrenal vein evaluation revealed that testosterone, dehydroepiandrosterone sulfate, estradiol, ?17(OH) progesterone, and cortisol were directly released from the tumor. The tumors weighed between 36-103 grams. The patients have since been followed for 5 to 20 years, and there have been no signs or symptoms of relapse in any of the patients.Conclusions: The study shows that functioning adrenocortical tumors should be considered in children and adolescents presenting with hyperandrogenism, Cushing’s syndrome, or hyperestrogenism. A diagnosis of a functioning adrenocortical tumor requires surgical removal as early as possible to prevent the untoward effects of virilization or corticosteroid excess. Evaluation of adrenal vein hormones showed that the steroids are secreted directly from the tumor and peripheral conversion has little contribution to the serum levels.Conflict of interest:None declared.

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Diagnosis of adrenocortical tumor in a neonate by detection of elevated blood 17-hydroxyprogesterone measured as a routine neonatal screening for congenital adrenal hyperplasia: a case report

Cited by 8 publications

References 25 publications

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Functioning Adrenocortical Tumors in  Children-Secretory Behavior

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Diagnosis of adrenocortical tumor in a neonate by detection of elevated blood 17-hydroxyprogesterone measured as a routine neonatal screening for congenital adrenal hyperplasia: a case report

Cited by 8 publications

References 25 publications

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Functioning Adrenocortical Tumors in Children-Secretory Behavior

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Functioning Adrenocortical Tumors in  Children-Secretory Behavior