Maturity-onset diabetes of the young type 10 presenting with familial hypocalciuric hypercalcemia type 1: A case report

VernacularTitle:青少年起病的成人型糖尿病10型合并家族性低尿钙性高钙血症1例报告
Author: Han WU ¹ ; Wei WANG ¹ ; Qingmei ZHANG ¹ ; Fengyi YUAN ¹
Author Information

1. 深圳市人民医院（暨南大学第二临床医学院，南方科技大学第一附属医院）内分泌科，深圳　518020
Publication Type:Journal Article
Keywords: Maturity-onset diabetes of the young type 10; Familial hypocalciuric hypercalcemia; Insulin gene; Calcium-sensing receptor gene
From: Chinese Journal of Endocrinology and Metabolism 2025;41(8):695-698
CountryChina
Language:Chinese
Abstract: This article reports the diagnosis and management of a patient with maturity-onset diabetes of the young(MODY) type 10 combined with familial hypocalciuric hypercalcemia(FHH) type 1. The patient was a young female with a normal body mass index, who presented with hyperglycemia, hypercalcemia, and hypocalciuria. Diabetes-related autoantibodies were negative, the C-peptide level was normal, the parathyroid hormone level was not suppressed, and there was a three-generation family history of diabetes. Genetic testing confirmed the diagnosis of MODY10 combined with FHH1. This represents the first reported case and aims to offer insights for the early diagnosis and recognition of these two rare diseases, MODY and FHH.