46, XY Disorders of Sexual Development: a case report and theoretical framework

46, XY Disorders of Sexual Development: a case report and theoretical framework

Authors

Keywords:

46, XY DSD, 17β-HSD3 deficiency, chromosomal sex, phenotypic sex, multidisciplinary approach

Abstract

Background and aim: Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis, testicular regression and ovotesticular sexual differentiation disorder, differences in androgen synthesis or action, such as androgen synthesis deficiency, androgen action deficits, LH receptor deficiency, AMH synthesis or action deficits, and other conditions such as severe hypospadias, cloaca estrophy, etc. Methods: A 17 years-old girl came to our attention for hirsutism, clitoral hypertrophy, primary amenorrhea, and bilateral mammary hypoplasia. According to clinical features and anamnesis, the diagnosis of 46, XY DSD was made. For diagnostic purposes, she underwent an extensive genetic analysis, hormone dosage and instrumental examinations. After a clitoridoplasty and hormone replacement treatment, the patient performs appropriate multidisciplinary follow-up and regular psychotherapy. Results: The clinical case reported falls, according to the recent classification developed by the Chicago Consensus, within the scope of DSD with karyotype 46, XY. About 160 cases of patients with 17β-HSD3 deficiency, diagnosed at a mean age of 12 years, are described in the literature, most of them coming from Western Asia and Europe and only three cases from Eastern Asia. Clinically, about 30% of patients showed virilization, 20% clitoromegaly, ambiguous genitalia, inguinal/labial mass, 16% primary amenorrhea, and 5% absence of mammary development, features that are partly traced in the case described here. Conclusions: This case underscores the complexity of managing individuals with DSD. Having acquired the concept that irreversible surgery should be avoided, except in cases where failure to do so would determine health risks, the primary objective of the medical decision lies in meeting conditions aimed at harmonious sexual identification, especially regarding sexual activity and fertility, involving a team of experienced professionals (psychologists, pediatricians, surgeons, endocrinologists, radiologists), capable of promptly identifying suggestive clinical signs.

References

Hughes IA, Houk C, Ahmed SF, et al.; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554–63

Erdoğan S, Kara C, Uçaktürk A, et al. Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol. 2011;3(2):77-83.

Kutney K, Konczal L, Kaminski B, et al. Challenges in the diagnosis and management of disorders of sex development. Birth Defects Res C Embryo Today. 2016;108(4):293–308

Looijenga LH, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2007;21(3):480-95.

Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5a-reductase-2 deficiency. Mol Cell Endocrinol. 2002;198(1–2):51–9.

Mendonca BB, Domenice S, Arnhold IJ, et al. 46, XY disorders of sex development (DSD). Clin Endocrinol (Oxf). 2009;70(2):173–87.

Domenice S, Arnhold IJP, Costa EMF, et al. 46, XY Disorders of Sexual Development. 2017 May 3. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.

Wilson JD. Sexual differentiation of the gonads and the reproductive tract. Biol Neonate. 1989;55(6): 322–30

Domenice S, Machado AZ, Ferreira FM, et al. Wide spectrum of NR5A1-related phenotypes in 46, XY and 46, XX individuals. Birth Defects Res C Embryo Today. 2016;108(4):309–20

Markosyan R, Ahmed SF. Sex assignment in conditions affecting sex development. J Clin Res Pediatr Endocrinol. 2017;9(Suppl 2):106–12.

Bashamboo A, Brauner R, Bignon-Topalovic J, et al. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet. 2014;23(14):3657–65.

Raza J, Zaidi SZ, Warne GL. Management of disorders of sex development - With a focus on development of the child and adolescent through the pubertal years. Best Pract Res Clin Endocrinol Metab. 2019;33(3):101297.

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Published

06-06-2022

How to Cite

1.
46, XY Disorders of Sexual Development: a case report and theoretical framework . Acta Biomed [Internet]. 2022 Jun. 6 [cited 2024 Jun. 18];93(S3):e2022145. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/13067

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