IMPE2023 Poster Presentations Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (19 abstracts)
Differences of Sex Development Associated to Asymmetrical Overgrowth in a Patient with Chromosomal Mosaicism.
Malena Quarracino 1 , Claudia Terada 1 , Manuel Daroqui 1 , Edgardo Baialardo 1 , Pablo Ramirez 1 , Natalia Perez Garrido 1 , Roxana Marino 1 , Aldo Miglieta 2 , Silvia Caino 1 , Angelica Moresco 1 , Maria Gabriela Obregon 3 , Alicia Belgorosky 1,4 , Cristina Alonso 1 , Esperanza Berensztein 1 & Elisa Vaiani 1
1Hospital de Pediatria “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina. 2Hospital Provincial de Rosario, Rosario, Argentina. 3Hospital de Pediatria “Prof. Dr. Juan P Garrahan”, Buenos Aires, Argentina. 4Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina
Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological strategy applied/developed to achieve the patient diagnosis. The patient was born from non-consanguineous parents, at term. Birth weight was 3,250 g. The baby was assigned female sex and was referred at 11 months-old for atypical genitalia and body asymmetries. Physical examination showed dysmorphic features, right hemi-hypertrophy of the face, and left hemi-hypertrophy of upper and lower limbs, cutaneous hypo and hyper- pigmented lesions following Blaschko lines. She presented genital tubercle hypertrophy, labioscrotal asymmetry with urogenital sinus and a palpable right gonad. Pelvic ultrasound showed a lateralized-to-the-left uterus and an intra-abdominal gonad on the left side. Gonadal biopsies showed a right dysgenetic testis and a left ovary. Serum LH/FSH (2.9/3.8 UI/l) and estradiol (44 pg/ml) were according to female reference values. Post hCG-testosterone was 6.3 ng/ml, suggesting the presence of interstitial testicular tissue. The peripheral blood lymphocytes karyotype was 46,XX in 40 metaphases (M), while in fibroblast cell culture of a skin biopsy it was 46,XX (36 M)/69,XXY (6 M) mixoploidy. Molecular diagnosis of SRY resulted negative in peripheral blood lymphocytes, but positive in dysgenetic testis and in skin biopsies.In conclusion, when diagnosis of mosaicism is suspected and normal karyotype is found in peripheral blood, chromosome analysis in other tissues should be carried out. In the present case, the described 46,XX/69XXY somatic myxoploidy is the most probable cause of DSD.
Article tools
My recent searches
My recently viewed abstracts
Authors
IMPE Abstracts
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more