Delayed Puberty Onset and Short Stature as First Signs of Swyer’s Syndrome?

Authors: L. Šabová 1;  Z. Blusková 1;  D. Virgová 2;  V. Cingel 3;  J. Porubský 4;  Ľ. Košťálová 1
Authors‘ workplace: II. detská klinika LFUK a DFNsP, Bratislava prednosta prof. MUDr. L. Kovács, DrSc., MPH 1;  Pediatricko-neonatologické oddelenie NsP Levice, n. o. primárka MUDr. D. Virgová 2;  Klinika detskej chirurgie LFUK a DFNsP, Bratislava prednosta doc. MUDr. J. Trnka, CSc. 3;  Ústav patologickej anatómie LFUK, Bratislava prednosta prof. MUDr. Ľ. Danihel, PhD. 4
Published in: Čes-slov Pediat 2010; 65 (3): 110-116.
Category: Case Report


A 15-year-old patient sent to the pediatric endocrinologist for short stature and lack of spontaneous puberty development. Her phenotype including external genitals was female. Ultrasonography and MRI of the pelvis detected a hypoplastic uterus, but the presence of ovaries was not clearly described. Laboratory tests showed high levels of both gonadotropins LH and FSH, and low level of estradiol and testosterone. The karyotype revealed a 46,XY chromosomal constitution. Laparoscopy proved small uterus with Fallopian tubes bilaterally. Histological investigation did not confirm the structure of ovaries nor testes.

The diagnosis of pure gonadal dysgenesis (Swyer’s syndrome), which belongs to the disorders of sexual differentiation, was assessed. Our patient is treated with small doses of estrogens to induce puberty and being child born small for gestational age (SGA) she is treated also with growth hormone for short stature.

Key words:
Swyer’s syndrome, pure gonadal dysgenesis, short stature, delayed puberty onset


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Neonatology Paediatrics General practitioner for children and adolescents
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