open access

Vol 69, No 6 (2018)
Original Paper
Published online: 2018-09-19
Submitted: 2018-03-15
Accepted: 2018-04-29
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Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review

Katarzyna Pasternak-Pietrzak, Constantine A. Stratakis, Elżbieta Moszczyńska, Agnieszka Lecka-Ambroziak, Michał Staniszewski, Urszula Wątrobińska, Charalampos Lyssikatos, Monika Prokop-Piotrkowska, Wiesława Grajkowska, Maciej Pronicki, Mieczysław Szalecki
DOI: 10.5603/EP.a2018.0063
·
Pubmed: 30259502
·
Endokrynologia Polska 2018;69(6):675-681.

open access

Vol 69, No 6 (2018)
Original Paper
Published online: 2018-09-19
Submitted: 2018-03-15
Accepted: 2018-04-29

Abstract

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial.
Material and methods: We present two patients with PPNAD confirmed by genetic analysis.
Results: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients.
Conclusions: The novel mutations presented in this article are considered to be pathogenic for PPNAD. 

Abstract

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial.
Material and methods: We present two patients with PPNAD confirmed by genetic analysis.
Results: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients.
Conclusions: The novel mutations presented in this article are considered to be pathogenic for PPNAD. 

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Keywords

Cushing’s syndrome; nodular adrenocortical disease; Carney complex; PPNAD

About this article
Title

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review

Journal

Endokrynologia Polska

Issue

Vol 69, No 6 (2018)

Pages

675-681

Published online

2018-09-19

DOI

10.5603/EP.a2018.0063

Pubmed

30259502

Bibliographic record

Endokrynologia Polska 2018;69(6):675-681.

Keywords

Cushing’s syndrome
nodular adrenocortical disease
Carney complex
PPNAD

Authors

Katarzyna Pasternak-Pietrzak
Constantine A. Stratakis
Elżbieta Moszczyńska
Agnieszka Lecka-Ambroziak
Michał Staniszewski
Urszula Wątrobińska
Charalampos Lyssikatos
Monika Prokop-Piotrkowska
Wiesława Grajkowska
Maciej Pronicki
Mieczysław Szalecki

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