Introduction: Primordial short stature can have many different causes. In addition to maternal factors (e.g. placental insufficiency), genetic or skeletal disorders may be found in the child. It is important to identify the underlying aetiology in time, since not only the risk of diabetes is increased, but also the prevalence of insufficient gonadal function and malignancy, e.g. in mixed gonadal dysgenesis (MGD).
Case report: A 19 year old adolescent presented with primordial short stature (2500 g, 47 cm at birth, GA 40 weeks). History revealed urinary tract infections in earlier childhood and double kidneys as well as mildly impaired intelligence. Puberty was delayed with an onset at the age of 16 years. Phenotype was male with well-proportioned short stature, except for a broad chest. He presented dysmorphic signs like low-hairline, low-set ears, multiple pigmented naevi; there were no cardiovascular or renal anomalies. The external genitals showed a normally formed penis with two intra-scrotal hypotrophic testes with a volume of 5 ml each, in the presence of nearly adult pubertal stages P5, G4-5. The palpation of the scrotum revealed an indolent scrotal tumour well separated from the testes. Endocrinological investigations identified a MGD with 46,XY (75%)/45,X (25%) karyotype in lymphocytes and normal testosterone production. Elevated FSH was indicative of testicular dysgenesis. Ultrasound investigation of the tumour showed a tubular structure suspected to be a hypoplastic uterus. Surgical exploration showed a circumscribed tumour histologically proved to be a rudimentary uterus without evidence of malignancy. Because of sufficient gonadal function and male phenotype the testes remained intra-scrotal and will be checked by ultrasound regularly.
Conclusions: In male and female children with primordial (or non-familial) short stature and even discreet dysmorphic signs of Ulrich-Turners syndrome, a karyogram should be performed in time, since several types of gonadal neoplasms have been described in MGD. MGD conditions are accompanied by a wide phenotypical range and comprise the entire spectrum from normal testes or ovaries, unilateral streak gonads with contralateral testis, ovary or uterus to bilateral streak gonads. This is the first report of an intra-scrotal uterus which is well delimited from the testis in a male patient with MGD. Furthermore, there is a controversial discussion of the proceeding in male patients with MGD because of the increased risk of testicular malignancy. Though fertility may be already impaired, we decided not to perform orchiectomy in this patient since there were no indicators of malignancy, a well-accessible intra-scrotal location of the testes and an otherwise normal gonadal function. Regular clinical and ultrasound examinations should detect malignant degeneration in time.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology