open access

Vol 69, No 6 (2018)
Original paper
Submitted: 2018-03-15
Accepted: 2018-04-29
Published online: 2018-09-19
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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-Pietrzak1, Constantine A. Stratakis2, Elżbieta Moszczyńska1, Agnieszka Lecka-Ambroziak1, Michał Staniszewski1, Urszula Wątrobińska1, Charalampos Lyssikatos2, Monika Prokop-Piotrkowska1, Wiesława Grajkowska3, Maciej Pronicki3, Mieczysław Szalecki14
·
Pubmed: 30259502
·
Endokrynol Pol 2018;69(6):675-681.
Affiliations
  1. Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute (CMHI), Warsaw, Poland
  2. Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States, Bethesda, United States
  3. Pathology Department, The Children’s Memorial Health Institute, Warsaw, Poland
  4. The Medicine and Health Sciences Faculty, University of Jan Kochanowski, Kielce, Poland

open access

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

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. 

Get Citation

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)

Article type

Original paper

Pages

675-681

Published online

2018-09-19

Page views

3038

Article views/downloads

1458

DOI

10.5603/EP.a2018.0063

Pubmed

30259502

Bibliographic record

Endokrynol Pol 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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