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      Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history

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          Abstract

          The Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition.

          In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed.

          The concrete risk of observing Amelogenin anomalies, their potential causes, and the context in which they occur (forensic, i.e. non-medical) mean that laboratory operators are called to strike a complex balance between privacy interests and individual health rights when providing preliminary information and reporting Amelogenin incidental findings. This case history argues for the need of a more responsible approach towards the Amelogenin sex test in the forensic community.

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          Consensus statement on management of intersex disorders.

          I A Hughes (2005)
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            Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

            Peter A. Lee, Anna Nordenström, Christopher Houk … (2016)
            The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.
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              Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

              Hedi Claahsen - van der Grinten, Phyllis W Speiser, S. Ahmed … (2021)
              Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000, there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in CAH with special attention to these new developments.
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                Author and article information

                Contributors
                Carlo Robino
                Journal
                Journal ID (nlm-ta): Forensic Sci Int Synerg
                Journal ID (iso-abbrev): Forensic Sci Int Synerg
                Title: Forensic Science International: Synergy
                Publisher: Elsevier
                ISSN (Electronic): 2589-871X
                Publication date PMC-release: 29 September 2023
                Publication date Collection: 2023
                Publication date (Electronic): 29 September 2023
                Volume: 7
                Electronic Location Identifier: 100440
                Affiliations
                [a ]Department of Public Health Sciences and Pediatrics, University of Turin, C.so Galileo Galilei 22, 10126, Turin, Italy
                [b ]Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy
                Author notes
                [∗ ]Corresponding author. carlo.robino@ 123456unito.it
                [1]

                Authors equally contributed to the paper.

                [2]

                Present Address: National Social Insurance Agency (INPS), Via XX Settembre, 34, 10121 Turin, Italy.

                Article
                Publisher Item ID: S2589-871X(23)00127-4 Publisher ID: 100440
                DOI: 10.1016/j.fsisyn.2023.100440
                PMC ID: 10568343
                PubMed ID: 37840559
                SO-VID: 690fad2b-0ec0-4e06-9fde-dc9115a38216
                Copyright © © 2023 The Authors. Published by Elsevier B.V.
                License:

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 28 October 2022
                Date revision received : 7 September 2023
                Date accepted : 14 September 2023
                Categories
                Subject: Interdisciplinary Forensics

                Keywords: incidental findings,amelogenin test,forensic genetics,differences/disorders of sex development (dsd),klinefelter syndrome
                Data availability:
                Keywords: incidental findings, amelogenin test, forensic genetics, differences/disorders of sex development (dsd), klinefelter syndrome

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