ECE2022 Eposter Presentations Reproductive and Developmental Endocrinology (93 abstracts)
Disorders of sex development 46XY revealed at adult age : A report of three cases and and literature review
Benabdelatif Katia , Malek Iabbassen , Bensalah Meriem & Ould Kablia Samia
Central Military Hospital, Algiers, Algeria
Introduction: Disorders of sex development include a large number of congenital conditions related to unusual chromosomal sex (gonosomal abnormalities), defective testicular development, or abnormal hormone secretion or receptivity, resulting in unusual external and/or internal genitalia development rare. Patients and methods we report 3 cases of disorders of sex development 46XY reveled at adult age. clinical, biological and radiological funding are reported in the following table.
| Patients | 1 | 2 | 3 | |
| Age (years) | 17 | 16 | 16 | |
| Assignation sex | F | F | M | |
| Revealing signs | Primary Amenorrhea | primary Amenorrhea | Lack of virilization | |
| Tanner stage | P5S2 | P2S1 | P4 G4 Testis V3 < 4 cc. | |
| EMS | 5 | 5 | 7.5 | |
| Quigley stage | 4 | 5 | 5 | |
| Sinnecker stage | 4b | 6 | 6 | |
| Biology | Hight testosterone | low testosterone AMH normal. Testo/DHT: 1.07 | low testosterone | |
| HCG Test | Positif (25 ng/ml) | Negatif (0.1 ng/ml) | Not done | |
| Diagnostic | 5-Alpha-Reductase Deficiency | leydig cell hypoplasia | Partiel androgen insensibiltity | |
| Imaging (ultrasound/IRM) | Gonads corresponding to testis 33*11 mm in inguinal position without uterus. | Gonads corresponding to testis 20*19 mm in inguinal position without uterus | Left gonad corresponding to testis 20*25 mm in position scrotal, right gonad 23.9 mm in inguinal position without uterus. | |
| treatment | surgery | surgery | Orchydopexia + Hypospadias correction | |
| Anapathe | mature testicular tissue. | mature testicular tissue. | //// | |
| *EMS: external masculinization score. | ||||
Conclusion: Disorders of sex development are rare situations that require a rigorous assessment and early treatment. They often are congenital pathologies that have consequences in terms of self-esteem, sexuality and fertility in the future.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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