Reverse Referral: From Pathology to Endocrinology |
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| Authors: | Selma Feldman Witchel Sarangarajan Ranganathan Megan Kilpatrick Sally E. Carty |
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| Affiliation: | (1) Division of Pediatric Endocrinology, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA;(2) Department of Pathology, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA;(3) Section of Endocrine Surgery, Department of Surgery, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA, USA |
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| Abstract: | Establishing a diagnosis of multiple endocrine neoplasia type 1 (MEN1) especially in children, adolescents, and young adults can be challenging because of phenotypic heterogeneity even among family members. We report an adolescent girl diagnosed to have MEN1 following presentation with multiple collagenomas. Histological evaluation of her cutaneous lesions revealed >70 collagenomas. Hormonal evaluation included calcium, phosphate, and parathormone measurements. Exons 2–10 of the MEN1 gene and flanking intron–exon borders were sequenced and revealed a novel nonsense mutation, Y222X. Following the identification of the cutaneous lesions as collagenomas by the pathologist, the patient was referred for an endocrine evaluation which revealed asymptomatic primary hyperparathyroidism. The patient elected to have surgery at which time she was found to have parathyroid hyperplasia. This case emphasizes the usefulness of cutaneous findings for the diagnosis and management of MEN1. |
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| Keywords: | multiple endocrine neoplasia MEN1 collagenoma hyperparathyroidism menin mutation |
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