Complete androgen insensitivity syndrome (CAIS) and eating disorders: a case report
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CASE REPORT
Complete androgen insensitivity syndrome (CAIS) and eating disorders: a case report E. Manzato1 · M. Gualandi2 · E. Roncarati3 Received: 25 August 2020 / Accepted: 2 November 2020 © Springer Nature Switzerland AG 2020
Abstract Androgen Insensitivity Syndrome represents a disorder due to partial (PAIS), mild (MAIS) or complete (CAIS) resistance to androgens caused by X-linked mutations of androgen receptor gene. CAIS is characterized by a female phenotype and XY karyotype. Cases of patients with CAIS and associated obesity have been reported, while to date, there are no reports about the onset of an Eating Disorder (ED) in the carriers of this condition. We describe the case of a patient affected by CAIS and Anorexia Nervosa (AN) restricting type later shifted to Bulimia Nervosa (BN). A previous overweight was present since childhood, contributing to severe Body Dissatisfaction (BD) and consequent restrictive behaviour in adolescence. Beyond its peculiarity, this case highlights also the importance of diagnosing and monitoring the overweight and BD in CAIS patients to avoid the onset of an ED. Level of Evidence: V, descriptive study. Keywords Complete Androgen Insensitivity Syndrome (CAIS) · Eating disorders · Overweight · Body dissatisfaction
Introduction Androgen Insensitivity Syndrome (AIS) was initially known as "Morris Syndrome" from the name of the American gynecologist, John McLean Morris, who described it for first time in 1953 as "testicular feminisation" term no longer used [1]. AIS represents a spectrum of conditions characterized by resistance to androgens due to mutations involving the androgen receptor gene, situated in the Xq11–q12 region. The carriers of this mutation have a 46 XY karyotype with feminisation or under-masculinisation of external genitalia * E. Manzato [email protected] 1
Psychiatrist, Former University of Ferrara and Former Chief of Eating and Weight Disorders Center, University Hospital S. Anna, chief of Eating and Weight Disorders Unit“L’Albero”, Private Hospital “Salus”, Via Arianuova 38, Ferrara, Italy
2
Medical Doctor, Former Responsible of Day Hospital of Internal Medicine and Eating Disorders, University Hospital S. Anna, Ferrara, Italy
3
Dietitian, University of Ferrara, Dietitian of Eating and Weight Disorders “L’Albero”, Private Hospital “Salus”, Ferrara, Italy
at birth, abnormal secondary sexual development in puberty, and infertility. AIS is inherited in an X-linked manner. According to the degree of androgen insensitivity, AIS is subdivided into three phenotypes: – Complete Androgen Insensitivity Syndrome (CAIS) with typical female external genitalia – Partial Androgen Insensitivity Syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia – Mild Androgen Insensitivity Syndrome (MAIS) with typical male external genitalia. CAIS is still considered a rare condition, with an estimated prevalence ranging from 2:100,000 to 5:100,000 [2] and from 1:20,400 to 1:99,100 [3] depending on the study. Subject
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