A girl with karyotype 46, XY – case report
Authors:
Z. Blusková; Ľ. Košťálová
Authors‘ workplace:
II. detská klinika LFUK a DFNsP, Bratislava
prednosta prof. MUDr. L. Kovács, DrSc., MPH
Published in:
Čes-slov Pediat 2013; 68 (2): 113-118.
Category:
Case Report
Overview
The case of a girl born with a disorder of sexual differentiation has been described. At the newborn age the child was assigned to the female sex only on the basis of greater macroscopic resemblance of external genitals. The clitoris was growing with the child and at the age of 6 years the size reached 3 cm and protruded from the labia. That was the reason why the family decided to visit a doctor. The genetic examination revealed karyotype 46 XY. In the course of the subsequent more than two years, various specialists were attended for establishment of diagnosis and therapy. As late as at the age of 8.5 years, the helpless mother decided to come for a consultation to endocrinology out-patient of 2nd Children Clinic, Medical Faculty and Children Faculty Hospital in Bratislava. The child was then hospitalized for solution of the condition.
MR imaging revealed the rudimentary male internal organs were present, whereas the female counterpart was not. Laboratory examinations were within normal limits for the given age. Under the present conditions it was not possible to establish final diagnosis. In view of the age, upbringing to a female direction and girl’s behavior and feelings, and considering the parents’ desire, the patient was left with the female sex. The inguinal tissues (susp. testes) were extirpated and histological findings revealed hypoplastic testes without Leydig cells. The external genitals of the patient were adjusted to the female direction.
Key words:
sexual differentiation disorders, 46 XY, insufficient formation and influence of androgens
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 2
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