Bilateral Congenital Adrenal Agenesis: A Rare Disease Entity and Not a Result of Poor Autopsy Technique

Author:

D'Arcy Colleen1,Pertile Mark23,Goodwin Tess4,Bittinger Sophie1

Affiliation:

1. Department of Anatomical Pathology, The Royal Women's Hospital, Parkville, Australia

2. Murdoch Childrens Research Institute, Melbourne, Victoria 3052, Australia

3. Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria 3052, Australia

4. Albury Wodonga Aboriginal Health Service, Glenroy, NSW 2640, Australia

Abstract

Congenital adrenal agenesis is an extremely rare condition wherein the adrenal glands fail to develop. The absence of adrenal tissue results in the complete absence of hormones produced in the adrenal cortex (cortisol, aldosterone) and medulla (catecholamines), and is not compatible with postnatal life without artificial hormone replacement therapy. To date, 9 cases of adrenal agenesis have been reported, many of which are associated with additional congenital anomalies. Most cases were not detected on antenatal imaging and were detected incidentally at postmortem examination. We present a case of adrenal agenesis, detected incidentally at postmortem examination after termination of pregnancy for suspected fetal hydrops, and review the heterogeneous phenotype of this condition with associated abnormalities and molecular genetics. This case reinforces the role of the perinatal autopsy to investigate cause of perinatal mortality, allowing correlation of pathology with antenatal imaging findings and clinical details.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Development and function of the fetal adrenal;Reviews in Endocrine and Metabolic Disorders;2022-10-18

2. Pancreas, Adrenal Glands, and Retroperitoneum;Pediatric Ultrasound;2021

3. Adrenal Glands;Urologic Surgical Pathology;2020

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