Interstitial Deletion of Chromosome 10 with Microgenitalia and Gynecomastia

We describe an 18 year old male with an interstitial development. This was characterized by dysplasia of the genital organs, absence of axillary hair and sparse pubic hair and a female like physique with bilateral gynaecomastia. Other clinical findings included severe mental retardation and minor anomalies , both of which were consistent with other reports. A review of the literature revealed 12 other cases of interstitial deletion of chromosome 10, 3 of which exhibited features of abnormal male sexual development. We conclude that there is an association between chromosome 10 and abnormal male sex development. Introduction The primary event in the determination of male and female sex is dependant on the presence or absence of the sex determining region of the Y chromosome (SRY). Recently a number of cases with chromosomal aberrations and impaired sexual development have suggested the existence of genes, located on the X chromosome and other autosomes, that arenecessary for male sexual determination. Impaired male sexual development and monosomy of 9p has been reported in a number of cases(Ogata et al. 1997). Similarly terminal 10q deletions appear to be associated with abnormal male genital development ( Wilkie et al. 1993).Here we describe a patient with a de novo interstitial deletion of (10)(q21) presenting with hypogonadism. The features of other reported interstitial 10q deletion cases are reviewed. The proband was born at 39 weeks to a 32 year old mother and a nonconsanguineous 33 year old father. The patient has 2 older brothers both of whom are physically and mentally normal. The pregnancy and delivery were normal except for slight cyanosis which was noted postpartum. Birth weight was 3300g, length was 50 cm and head circumference was 33 cm. In the neonatal period a right torticollis was noticed which resolved without intervention after 6 months. Acquisition of developmental milestones was