ESPE Abstracts (2019) 92 P3-242

Clinical and Laboratory Characteristics of Patients with Different Variants of Gonadal Dysgenesis

Oleg Latyshev1, Ekaterina Sannikova1, Lubov Samsonova1, Elena Kiseleva1, Goar Okminyan1, Elvira Kasatkina1, Elena Volodko1, Olga Dondup2


1Russian Medical Academy continuing professional education, Moscow, Russian Federation. 2Pirogov Russian National Research Medical University, Moscow, Russian Federation


Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.

Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n=17).

Gonadal dysgenesis criteria: mosaicism 45,X/46,XY, derivats Mullerian duct with 46,XY.

All children evaluated the structure of the external (External Masculinization Score, EMS, 0-12, n=27) internal genitalia (by pelvic ultrasound, n=27, laparoscopy, n=25), hormonal research in mini-puberty (follicle-stimulating hormone,FSH, n=15, luteinising hormone,LH, n=14, inhibin B, n=9), in mini-puberty and neutral period (anti-Mullerian hormone, AMH, n=24, basal testosterone and after the human chorionic gonadotrophin stimulation test, Δ, n=22)

Results: The reason for the initial treatment of all patients was ambiguous genitalia.

Age verification diagnosis: up to 1 month y 60% (6/10) of children with mosaicism and in 76% (13/17) of children with partial gonadal dysgenesis (ρ=0,31), up to 1 year — in 10% (1/10) vs 6% (1/17, ρ=0,6) and up to 3 years — y 30% (3/10) vs 18% (3/17, ρ=0,38).

Male gender selected in 76% of patients in group with mosaicism and in 60% - with partial gonadal dysgenesis (ρ=0,31).

Mediana (Me) EMS was 4,5 [1;10] in patients with mosaicism and 1,25 [1;5] – with DSD 46,XY, partial gonadal dysgenesis (ρ=0,033).

Functional state of the pituitary-gonadal system: elevated values FSH were in 60% (3/5) of patients with DSD 46,XY, partial gonadal dysgenesis (64,8; 20,1; 12,8 mIU/ml) and in 10% (1/10) of patients with DSD 45,X/46,XY (11 mIU/ml, ρ=0,07). Elevated values LH were in 60% (3/5) of patients with DSD 46,XY, partial gonadal dysgenesis (26,5; 12,6; 16,68 mIU/ml) vs 11% (1/9) with DSD 45,X/46,XY (19,27 mIU/ml, ρ=0,09).

Functional state of the gonads with mosaicism and partial gonadal dysgenesis: Me AMH 41,15 [1,75;168,6] vs 16,77 [1,97;44,5] ng/ml (ρ=0,049), Me ρT 9,47 [1,37;29,8] vs 4,93 [0,23;7,96] nmol/l (ρ=0,047), Me inhibine B 165,1 [111,9;341,4] vs 64,8 [2;356,6] pg/ml (ρ=0,32).

Conclusion: So, patients with DSD 45,X/46,XY in comparison with DSD 46,XY partial gonadal dysgenesis had safer gonad function and more pronounced degree of masculinization of the external genitalia, what to consider during rehabilitation of this group.

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