ESPE Abstracts

Background: Mixed gonadal dysgenesis (MGD) is a DSD with variations of 45,X/46,XY caryotype and different phenotype.

Objective and hypotheses: To describe the features of six patients (three raised as boys and three as girls).

Method: The mean patients’ age at the time of the report is 11.7±4.0 years old. Molecular diagnosis was made in utero and confirmed after birth in two boys (for maternal age and because one mother had thyroid cancer), in one child in neonatal period due to sexual ambiguity and in three children (one boy and two girls) around 10 years of age.

Results: At birth, three patients. had ambiguous genitalia (one male – chriptorchidism, one male – penile hypospadia, one – scrotal hypospadia with bilateral chriptorchidism for wich the sex of the child was initially established as male). One boy had normal genitalia since birth, two babies were raised as girls. In three girls and one boy at the age about 4 years old growth retardation became evident, further in life those girls had laparoscopic gonadectomy to decrease the risk of gonadoblastoma. All four children received GH treatment. In boy growth GH was interrupted due to the progression of bone maturation and spontaneous puberty. However, the puberty was not completed at age of 16 (testicular volume reached 10 ml, at US microlitiasis was seen), and during FISH analyzes microdeletions of the AZF-regions of Y-chromosome associated with oligo-/azoospermia were found. Another boy was referred to paediatric endocrinologist for obesity and also entered spontaneous puberty and is still under GH treatment. One boy was diagnosed and treated with hydronephrosis, two girls had horseshoe kidney. Girls with MGD had Turner-like features but were taller than those with classic TS caryotype. No one child had typical for TS cardiac malformations. One girl was operated for cholesteatoma.

Conclusion: Children with MGD present with variable phenotype and require closed follow-up by the team of the specialists.