Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinoma

Rustam Salimkhanov; Ekaterina Bondarenko; Anna Eremkina; Ekaterina Bibik; Ekaterina Kim; Kamila Begova; Ilya Kim; Sergey Kuznetsov; Natalia Mokrysheva

doi:10.3389/fendo.2023.1292993

Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinoma

Front Endocrinol (Lausanne). 2024 Jan 5:14:1292993. doi: 10.3389/fendo.2023.1292993. eCollection 2023.

Authors

Rustam Salimkhanov¹, Ekaterina Bondarenko², Anna Eremkina¹, Ekaterina Bibik¹, Ekaterina Kim¹, Kamila Begova¹, Ilya Kim³, Sergey Kuznetsov³, Natalia Mokrysheva⁴

Affiliations

¹ Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia.
² Laboratory of Pathomorphology, Endocrinology Research Center, Moscow, Russia.
³ Department of Endocrine Surgery, Endocrinology Research Center, Moscow, Russia.
⁴ Administration, Endocrinology Research Center, Moscow, Russia.

Abstract

Sagliker syndrome (SS) is an extremely rare disorder that manifests in patients with advanced chronic kidney disease (CKD) undergoing programmed hemodialysis as a renal replacement therapy. Treatment of secondary hyperparathyroidism (SHPT) in these patients is still challenging. The main clinical manifestations of SS include craniofacial and fingertip deformities, dental anomalies, gingival hyperplasia, short stature, hearing loss, neurological and psychiatric impairment. The etiology and pathogenesis of SS in patients with SHPT require further clarification. However, mutations in the GNAS1, FGF23, and FGFR3 genes were described in some patients, suggesting a possible role of genetic predisposition to the syndrome. The preferred therapeutic approach for SS is surgery, but the volume of the operation is debated. The main surgical strategies include total, subtotal parathyroidectomy, or total parathyroidectomy with autotransplantation of the parathyroid gland (PG). Unfortunately, parathyroidectomy does not contribute to the regression of significant skeletal deformities. We present a unique clinical case of a patient with classical features of SS, recurrent tertiary hyperparathyroidism (THPT) after total parathyroidectomy due to intrathyroidal parathyroid carcinoma (PC).

Keywords: Sagliker syndrome; case report; chronic renal failure; parathyroid carcinoma; tertiary hyperparathyroidism.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Carcinoma*
Humans
Hyperparathyroidism* / complications
Hyperparathyroidism* / surgery
Parathyroid Glands
Parathyroid Neoplasms*
Parathyroidectomy

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. The research was supported by the Government of the Russian Federation (agreement no. 075-15-2022-310 from 20.04.2022).