ESPE2023 Poster Category 2 Adrenals and HPA Axis (37 abstracts)
Patient with Carney complex syndrome due to PRKAR1A mutation.
Ioannis- Anargyros Vasilakis 1 , Konstantina Barouti 1 , Amalia Sertedaki 1 , Effrosyni Giannopoulou 1 , Panagiota Markopoulou 1 , Paraskevi Zosi 2 , Evangelia Lykopoulou 1 , Nikolaos Christopoulos 3 , George N. Zografos 4 , Manthoula Valari 1 , Kalliopi Stefanaki 5 , Constantine A. Stratakis 6,7 , Evangelia Charmandari 1 & Christina Kanaka- Gantenbein 1
1First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, “Aghia Sophia” Children’s Hospital, Athens, Greece. 2Department of Pediatrics, General Hospital of Piraeus “Aghios Panteleimon”, Piraeus, Greece. 3Department of Pediatric Surgery, "Aghia Sophia" Children's Hospital, Athens, Greece. 4Third Department of Surgery, “G. Gennimatas” General Hospital of Athens, Athens, Greece. 5Department of Pathology, “Aghia Sophia” Children's Hospital, Athens, Greece. 6Human Genetics & Precision Medicine, Institute for Molecular Biology & Biotechnology (IMBB), Foundation for Research & Technology Hellas (FORTH), Heraklion- Crete, Greece. 7ELPEN, Inc. & H. Dunant Hospital, Medical Genetics, Athens, Greece
Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveillance and treatment of clinical manifestations and complications.
Aim: Clinical presentation, laboratory values, molecular genetic testing, treatment and monitoring of a patient with Carney complex, first diagnosed with adrenal Cushing’s syndrome due to primary pigmented nodular adrenocortical disease (PPNAD).
Patient and Methods: The patient was referred at the age of 82/12 years due to rapid weight gain the last 4 months. Her past medical history was insignificant, but her father had a testicular seminoma surgically removed years ago. Her physical examination showed central obesity (BMI>97 percentile), hypertension, buffalo hump, moon facies and red striae at thighs. On biochemical workup, 24h urinary free cortisol (UFC) levels were elevated and serum ACTH levels were undetectable. Moreover, an overnight 1 mg dexamethasone suppression test failed to suppress morning serum cortisol levels. The child was put on felodipine and CT and MRI imaging of retroperitoneum revealed mild bilateral adrenal thickening, mostly of the left gland.
Treatment and follow up: Τhe patient underwent left adrenalectomy. The pathology analysis revealed PPNAD. A remission phase of Cushing’s followed with loss of body weight, improvement of growth rate, normal evolution of adolescence. Furthermore, antihypertensive therapy was withdrawn as she was normotensive. Due to the pandemic, she was not consistent with her medical appointments and at the age of 105/12 years, she appeared with weight gain, blue nevi as well as skin and oral mucosa hyperpigmentation. Recurrence of Cushing Syndrome was not confirmed. At that point, a Whole Exome Sequencing of the patient and her parents took place, and revealed a heterozygous paternal origin mutation (pathogenic variant p.Arg97Stop) in the PRKAR1A gene. Thyroid gland and internal genitalia ultrasound imaging were normal. At the age of 114/12 years, with progressive weight gain and fall in growth rate, Liddle tests took place which confirmed recurrence of Cushing syndrome. Right adrenalectomy is planned.
Conclusion: PPNAD is combined with Carney Complex syndrome at a rate of 60%. Early detection and genetic identification of the syndrome allows timely diagnosis and treatment of multiple evolving clinical manifestations.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more