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Gordon MS, Gordon MB. Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus. Case Rep Endocrinol. 2016;2016:5191903doi: 10.1155/2016/5191903.
Gordon, M. S., & Gordon, M. B. (2016). Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus. Case reports in endocrinology, 20165191903. https://doi.org/10.1155/2016/5191903
Gordon, Michael S, and Gordon, Murray B. "Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus." Case reports in endocrinology vol. 2016 (2016): 5191903. doi: https://doi.org/10.1155/2016/5191903
Gordon MS, Gordon MB. Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus. Case Rep Endocrinol. 2016;2016:5191903. doi: 10.1155/2016/5191903. Epub 2016 Aug 30. PMID: 27656301; PMCID: PMC5021458.
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Case Rep Endocrinol. 2016;2016:5191903. doi: 10.1155/2016/5191903. Epub 2016 Aug 30.

Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus.

Case reports in endocrinology

Michael S Gordon, Murray B Gordon

Affiliations

  1. Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  2. Division of Endocrinology, Allegheny Neuroendocrinology Center, Allegheny General Hospital, Drexel University College of Medicine, Pittsburgh, PA, USA.

PMID: 27656301 PMCID: PMC5021458 DOI: 10.1155/2016/5191903

Abstract

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I(131) therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto's thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.

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