ECE2022 Poster Presentations Pituitary and Neuroendocrinology (127 abstracts)
Central Diabetes Insipidus, family report, molecular study, and its importance
Luis Filipe Sá 1 , Rafaela Sousa 1 , Darine Villela 2 , Thereza Cavalcanti 2 , Michele Migliavacca 2 , Rosita Fontes 3 , Marilia Guimarães 4 , Micheline Souza 4 , Paula Coelho 1,3 , Mariana Botelho 1 , João Nascimento 1 , Mirna Carvallo 1 , Pedro Viveiros 1 , Delmar Lourenço Jr 5 , Erika Naliato 6 & Alice Violante 4
1Federal University of Rio de Janeiro (UFRJ), Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, Brazil; 2Diagnósticos da America S.A. (DASA), GeneOne, São Paulo, Brazil; 3Diagnósticos da América S.A. (DASA), Diagnósticos da América S.A. (DASA), Duque de Caxias, Brazil; 4Federal University of Rio de Janeiro (UFRJ), Endocrinology, Rio de Janeiro, Brazil; 5University of São Paulo (USP), Hospital das Clínicas da USP, São Paulo, Brazil; 6Ricardo A T Castilho Center of Studies, Teresopolis Medical Association, teresopolis, Brazil
Introduction: Central diabetes insipidus (CDI) occurs due to deficient secretion of arginine vasopressin (AVP) or antidiuretic hormone (ADH) by the posterior pituitary. It is a rare disease with an estimated prevalence of 1:25000. CDI can be acquired or congenital, secondary to malformation or genetics. Familial CDI (genetic inheritance) is mainly autosomal dominant. More than 80 mutations in the AVP gene have been described. In hereditary CDI, the age of onset is variable. Symptoms arise mostly in childhood but, very often, later. Clinical features include polyuria and polydipsia of variable severity, dehydration, in the absence of volume replacement, and hypernatremia. Partial deficit of oxytocin and carrier protein, estrogen-stimulated neurophysin (ESN), and anterior pituitary hormone deficiency may coexist. The aim of this study is to describe the clinical cases and genetic study of a father and his male firstborn with familial CDI diagnosed with a rare variant c.329G>A;p.p.(Cys110Tyr), in heterozygosity in the AVP gene.
Case Reports: Patient 1 presented polydipsia and low body weight at two years of age. Diagnosis of CDI was confirmed with a water deprivation test. Magnetic resonance imaging (MRI) of skull and sella showed only absence of the neuropituitary signal. Treatment was instituted with intramuscular synthetic vasopressin, and posteriorly modified to nasal desmopressin acetate (DDAVP) spray. He remains without signs and symptoms to date, at 41 years of age, on regular use of DDAVP. Patient 2 is the firstborn of patient 1 and first presented polydipsia and nocturia at age of four. Diagnosis was established at 11 years of age with a water deprivation test. MRI of skull and sella showed only absence of the neuropituitary signal. Treatment was instituted with DDAVP nasal spray and maintained until the present time; at 17 years of age, he remains asymptomatic. Genetic study was performed by exome sequencing, which described the c.329G>A;p.(Cys110Tyr) variant, identified in heterozygosity in the AVP gene. This very rare variant results in the substitution of amino acid in the protein encoded and is classified as likely pathogenic. The absence of any other manifestation, unlike other genetic causes of CDI, is highlighted.
Conclusion: We emphasize the possibility that rare diseases, such as CDI, may be familial, and the need for a clinical investigation of family members with similar manifestations and molecular testing and genetic counseling if possible.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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