Three out of four: a case discussion on ambiguous genitalia

• Published in: European journal of endocrinology Vol. 159; no. suppl_1; pp. S91 - S93
• Main Authors: van Mil, Edgar G A H, Hiort, Olaf
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Bristol BioScientifica 01-12-2008
• Subjects: Adrenal Hyperplasia, Congenital - complications; Androgens - metabolism; Biological and medical sciences; Clitoris - surgery; Counseling; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; Gonadal Dysgenesis, 46,XX - etiology; Gonadal Dysgenesis, 46,XX - genetics; Gonadal Dysgenesis, 46,XX - metabolism; Gonadal Dysgenesis, 46,XX - surgery; Humans; Infant, Newborn; Karyotyping; Male; Medical sciences; Religion; Treatment Refusal; Up-Regulation; Vagina - surgery; Vertebrates: endocrinology; Sexual differentiation disorder; Discussion; Endocrinology; Genital diseases
• ISSN: 0804-4643; 1479-683X
• DOI: 10.1530/EJE-08-0412

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in many patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, decision making and also therapeutic interventions, a highly specialised team of physicians of different subspecialties and experts for psychosocial care is needed to counsel parents and patients accordingly. This article presents a case with 46,XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refused further genetic testing. The outcome of subsequent pregnancies confirmed the working diagnosis of an autosomal form of 46,XX DSD. However, the family still refused prenatal testing and treatment on religious grounds. The case discussion further illuminates the possible influence of religion in prenatal testing and concludes with the approach to the parents for comprehensive counselling in decision making for their child.