TITLE:
Genetic mos 46,X, idic(Y)(q12)[9]/45,X[6].ish idic(Y)(SRY+,DYZ3++,SRY+): A Case of Mixed Gonadal Dysgenesis in a Child with Cryptorchidism and Hypospadias from Ouagadougou, Burkina Faso
AUTHORS:
Bapio Valérie Elvira Jean Télesphore Bazie, Nicaise Zagré, Issoufou Tao, Luc Zongo, Paul Ouédraogo, Abdou Azaque Zouré, Théodora Mahoukèdè Zohoncon, Jacques Simpore
KEYWORDS:
Mixed Gonadal Dysgenesis, idic(Y)(q12), Disorders of Sex Development, Mosaicism, Karyotype, FISH
JOURNAL NAME:
Open Journal of Genetics,
Vol.15 No.1,
January
27,
2025
ABSTRACT: Disorders of sexual development arise from a disparity between chromosomal, gonadal, or phenotypic characteristics. Despite their rarity, these disorders hold significant clinical and multidisciplinary importance. In this context, we present a case involving mixed gonadal dysgenesis (MGD) due to mosaicism, with a karyotype of mos 46,X, idic(Y)(q12)[9]/45,X[6], in a child named OKA. The child’s legal sex is registered as male in the civil registry, exhibiting normal psychomotor development for his age, as well as appropriate growth in height and weight according to the growth curve. However, physical examination reveals certain anomalies within the external genitalia—including labia majora, a micropenis in lieu of a clitoris. These observations prompted genetic analyses, including postnatal constitutional karyotyping and FISH techniques utilizing a specific SRY locus probe and the centromeric probe of the Y chromosome. These analyses confirm the presence of mos 46,X, idic(Y)(q12)[9]/45, X[6].ish idic(Y)(SRY+, DYZ3++, SRY+). An abdominopelvic ultrasound aimed at identifying internal genitalia in OKA revealed bilateral cryptorchidism, along with an uncomplicated right inguinoscrotal hernia. Subsequently, orchidopexy was recommended. Mixed gonadal dysgenesis, mosaicism, and cryptorchidism were diagnosed in this case.