ESPE Abstracts (2019) 92 P2-245

Etiological Structure Disorders of Sex Development 46,XY By One Center

Ekate Sannikova1, Lubov Samsonova1, Oleg Latyshev1, Elena Kiseleva1, Goar Okminyan1, Elvira Kasatkina1, Olga Dondup2, Alexey Okulov1, Anatoliy Tulpakov3


1Russian Medical Academy of Continuing Professional Education, Moscow, Russian Federation. 2Pirogov Russian National Research Medical University, Moscow, Russian Federation. 3National Medical Endocrinology Research Center, Moscow, Russian Federation


Objective: To study structure disorders of sex development (DSD) 46,XY by one center.

Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testosterone, dihydrotestosterone, androstendione, anti-Mullerian hormone, AMH, inhibin B, follicle-stimulating hormone, luteinising hormone) in mini-puberty (n=28), neutral period (n=21) and puberty (n=11), molecular genetic studies Ion Torrent custom Ampliseq_DSD (n=37) and gene such us AR (n=14), SF1 (n=2), SRY (n=3), CYP21 (n=2), WT1 (n=2), histology of gonads removed (n=23 by 15 patients).

Gonadal dysgenesis criteria: derivats Mullerian duct, AMH <55 ng/ml in mini-puberty and AMH <85 ng/ml in neutral period [Edelsztein N.Y et al].

Results: A definitive diagnosis was received in 56% (33/60) of children with 46,XY DSD: disorders of gonadal (testicular) development - 37% (22/60), disorders in androgen synthesis or action - 15% (9/60), persistent Mullerian duct syndrome - 2% (1/60) with homozygous mutation AMH, Smith-Lemli-Opiz syndrome - 2% (1/60) with heterozygous mutation DCHR7.

Disorders of gonadal development include complete gonadal dysgenesis in 13% (3/22) cases (pathological mutation WT1, n=1; SRY, n=2), in 82% (18/22) of cases – partial gonadal dysgenesis (pathological mutations SF1, n=2 и SRY, n=1; mutations in the genes SF1, n=1, ESR2, n=2, LHCGR1, n=1 pathological significance of today is not known), in 5% (2/22) – ovotesticular DSD (mutation ZFPM2, n=1 with pathological significance of today is not known).

Disorders in androgen synthesis or action presented by total (44%, 4/9) and partial (56%, 5/9) androgen insensitivity syndrome in 100% patients with pathological mutations gene AR.

While ƴ 44% (27/60) of patients didn't have verified variant of nosological pathology (mutation in genes LHX1, n=1, HSD17B3, n=1, AR, n=1, ZFPM2, FOXF2, n=1 with pathological significance of today is not known).

Conclusion: Completed complex survey including molecular genetic analysis allowed to verify nosological variant of DSD 46,XY only in 56% (33/60) of patients.

Rating of nosological variants of DSD 46,XY by frequency: partial gonadal dysgenesis (67%, 22/33), androgen insensitivity syndrome (27%, 9/33), total gonadal dysgenesis (10%, 3/33), persistent Mullerian duct syndrome (3%, 1/33), ovotesticular (3%, 1/33), Smith-Lemli-Opiz syndrome (3%, 1/33). Mutations in genes involved in gonadal development detected in 28% (17/60) patients, dominant mutations by frequency – AR (53%), SRY (17%), SF1 (12%), WT1 (6%), AMH (6%), DHCR7 (6%).

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