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Case seminar: a young female with acute hyponatremia and a sellar mass

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Abstract

In familial cases of combined pituitary hormone deficiency the most common mutations are that of Prophet of Pit 1 (PROP1) gene. PROP1 mutations are associated with deficiencies of growth hormone, thyrotropin, prolactin, and gonadotropins (follicle-stimulating hormone and luteinizing hormone), with evolving adrenocorticotropin (ACTH) deficiency in some cases. On imaging in most patients the pituitary gland is hypoplastic, but occasionally transient pituitary enlargement is found. We report a 22-year-old female initially diagnosed at age 12 with familial hypopituitarism due to PROP1 mutation, who presented with coma and respiratory arrest (acute hyponatremia). She was urgently treated in Intensive Care Unit of Emergency Center with hypertonic saline and stress doses of hydrocortisone, which resulted in the fast increase of plasma osmolality resulting in the osmotic demyelination syndrome. Simultaneously and incidentally on computed tomography scan a large sellar and suprasellar mass were reported as possible Rathke’s cleft cyst or craniopharyngioma. Once the patient was stable, ACTH deficiency was documented. She remained replaced with hydrocortisone and subsequently underwent transphenoidal surgery. The removed sellar content revealed no pituitary adenoma or pituitary cells, but only an eosinophilic, colloid-like mass, and necrotic acellular debris. Her sister with hypopituitarism had an empty sella. Genetic testing in both sisters revealed the same homozygous c.150delA mutation in PROP1 gene. Here we report two sisters with the same PROP1 mutation who presented in adulthood with different pituitary morphology, one of them with a large sellar and suprasellar mass, in which transphenoidal surgery provided an extremely rare opportunity for a histopathological analysis of the sellar content. Due to the lack of endocrine care during the transition period hypocortisolism which evolved, a consequence of PROP1 mutation, was not recognized. Empirical use of hydrocortisone in the Intensive Care in our patient with life-threatening acute hyponatremia was appropriate but because glucocorticoid therapy on its own corrects hyponatremia even after stopping hypertonic saline infusion, the risk for over-correction of hyponatremia in ACTH deficiency is high.

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Acknowledgments

The authors thank Professor Dr. Joseph G. Verbalis, Georgetown University Medical Center, Washington, DC for his substantial and important contribution in discussing the clinical course and management of hyponatremia in our patient. Genetic analysis of the PROP1 gene in both sisters and mother was performed in the Laboratoire de Biologie Moleculaire, Hopital de la Conception, Marseille, France (Prof. Alain Enjalbert). This investigation was supported by a grant from the Ministry of Science of Republic of Serbia (Project 175033) and a grant from the French National Research Agency (ANR-08-GENO-026-01).

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Authors and Affiliations

  1. Clinic of Endocrinology, Clinical Center Serbia, Belgrade, Serbia

    Sandra Pekic, Mirjana Doknic, Dragana Miljic & Vera Popovic

  2. Faculty of Medicine, University of Belgrade, Belgrade, Serbia

    Sandra Pekic, Mirjana Doknic & Vera Popovic

  3. Department of Endocrinology and Reference Centre for Rare Pituitary Diseases, Centre Hospitalo-Universitaire Timone, Marseille, France

    Alexandru Saveanu, Rachel Reynaud, Anne Barlier & Thierry Brue

  4. Laboratory of Biochemistry and Molecular Biology, Centre Hospitalo-Universitaire Conception, Assistance Publique Hôpitaux de Marseille and Université de La Méditerranée, Marseille, France

    Alexandru Saveanu & Anne Barlier

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  1. Sandra Pekic
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Correspondence to Vera Popovic.

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Pekic, S., Doknic, M., Miljic, D. et al. Case seminar: a young female with acute hyponatremia and a sellar mass. Endocrine 40, 325–331 (2011). https://doi.org/10.1007/s12020-011-9516-8

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