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.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology