Mullerian ducts derivatives in abdominal cryptorchism in children

Abstract

Disorder of sex determination is a condition associated with clinical and biochemical discrepancy between genetic, gonadal, and phenotypic sex of a child requiring detailed examination for final selection of sex. Indications for sex determination can arise both in infancy and during puberty. Several conditions pertaining to abnormal sex differentiation are manifested as normal male genitalia with Mullerian ducts derivatives.The study objective is to present clinical observations of children with persistent Mullerian duct syndrome.The study presents 2 clinical cases of children with disorders of sex determination. Both children were initially hospitalized at the surgical facility with cryptorchism diagnosis, Mullerian duct derivatives were found intraoperatively. During examination of the children (karyotyping, histological and immunohistochemical examination) in one case persistent Mullerian duct syndrome was diagnosed, in the other - chromosomal abnormality of sex formation (45,X/46,XY), mixed dysgenesis of the gonads.If Mullerian duct derivatives are found during diagnostic laparoscopy, resection biopsy of the ambiguous gonad and intraoperative single-step urethrocystoscopy for visualization of the seminal colliculus and catherization of the uterus for its identification from the abdominal side should be performed. Further examination includes karyotyping, hormonal examination, consultations with an endocrinologist and a geneticist, and genetic examination if necessary.