ESPE Abstracts (2015) 84 P-3-804

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Murat Karaoglan, Mehmet Keskin, Ayhan Ozkur & Ozlem Keskin


Gaziantep University, Gaziantep, Turkey


Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medical urgency.

Method: In this study, a total of 160 patients presenting disorder of sexuel development symptoms or findings were enrolled in Pediatric Endocrinology Department of Medical Faculty of Gaziantep University. We accepted following including criteria: i) Patients with XY karyotype ii) Ambiguous genitale iii) undescended testes iv) Hypospadias v) Micropenis vi) Puberta tarda we performed following tests all patients: FSH, LH, T, DHT, DHEAS, SHBG, AMH, karyotype, Y microdeletion, androgen receptor mutations 5α reductase mutations, LHRH stimulation test (choosen cases), HCG stimulation test.

Findings: Of the 160 children, 42 androgen insensitivity, 33 undescended testes, 24 isolated micropenis, 21 atrophic testis, 15 hypogonadotropic hypogonadism, 11 anorchia, six puberta tarda, four 5α reductase deficiency (5SRD), two gonadal dysgenesis, one 17-β hydroxy streroid dehydrogenase deficiency. Im terms of CAG or GGC repeat length, there was no statistically significant between patient groups. The mean CAG and GGC length in the AR gene were respectively 22 and 16. 114 patients had 5SRD gene polymorphism in exon1. 27 had no polymorphism. Anti mullerian hormone (AMH) was found highly correlated with testicular tissue volume, testicular function and determination of the presence of testicular tissue.

Conclusion: We consider that integrative evaluation of clinical characteristics, standard and dynamic tests with guiding algoritm of AMH provides considerable contributions in diagnosis of DSD, whereas genetic analysis has defining characteristics.

AMH seems as a guite useful hormonal marker in determination of presence testicular tissue and its function during prepubertal period in terms of DSD.

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