Family experience with individuals of different ages and clinical presentations diagnosed with DI: do familial DI cases tolerate polyuria better?

Hakan Birinci; Emrullah Arslan; Tansu Değirmenci; Bumin N. Dündar

doi:10.1515/jpem-2025-0342

Article

Family experience with individuals of different ages and clinical presentations diagnosed with DI: do familial DI cases tolerate polyuria better?

Hakan Birinci , Emrullah Arslan , Tansu Değirmenci and Bumin N. Dündar

Published/Copyright: September 10, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 12

Abstract

Objectives

Familial neurohypophyseal diabetes insipidus (DI) is a rare genetic disorder caused by vasopressin deficiency due to AVP gene mutations. This case report describes the genetic findings and clinical profiles of three generations within a family affected by hereditary central DI and managed with desmopressin.

Case presentation

An 8-month-old male infant was admitted due to persistent polyuria and polydipsia that had been present since birth. History revealed a daily fluid intake of 7,200 mL and required 13 full diapers. The water deprivation test revealed a serum osmolality >300 mOsm/kg with a concurrently low urine osmolality (<300 mOsm/kg), confirming the diagnosis of DI. Desmopressin therapy was initiated for the patient. Using next-generation sequencing, a heterozygous variant c.329G>A (p.Cys110Tyr) was detected in the AVP gene. Following our patient’s diagnosis, we evaluated first cousin once removed (on the maternal side) for similar symptoms. Upon identification of the heterozygous AVP variant via next-generation sequencing, desmopressin treatment was started. The same variant was detected in our patient’s grandfather, mother, aunt, great-uncle, and first cousin once removed. Polyuria and polydipsia were present in all patients included in our case series. The grandfather and great-uncle, who were initially diagnosed, experienced delayed diagnosis and later developed renal complications. In contrast, the following generations of the family were diagnosed early.

Conclusions

In familial cases, parents are often familiar with the clinical features of DI, allowing them to ensure adequate hydration, manage polyuria, and minimize the risk of dehydration. However, early diagnosis reduces the risk of long-term complications and enables effective family screening, allowing identification of previously unrecognized mild cases.

Keywords: familial diabetes insipidus; polyuria; early diagnosis; genetic testing; polydipsia

Corresponding author: Dr. Hakan Birinci, Pediatric Endocrinology Clinic, Ministry of Health Izmir City Hospital, Izmir, Türkiye, E-mail: hakanbirinci07@gmail.com

Research ethics: Not applicable.
Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Hakan Birinci and Emrullah Arslan contributed to patient evaluation, data collection, and drafting of the manuscript. Hakan Birinci performed the literature review and finalized the manuscript. Tansu Değirmeci and Bumin Nuri Dündar critically revised the manuscript and contributed to the interpretation of clinical data.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2025-06-17

Accepted: 2025-08-25

Published Online: 2025-09-10

Published in Print: 2025-12-17

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Articles in the same Issue

https://doi.org/10.1515/jpem-2025-0342

Keywords for this article

familial diabetes insipidus; polyuria; early diagnosis; genetic testing; polydipsia