Oneskorený nástup puberty a znížený rast ako prvé príznaky Swyerovho syndrómu?

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

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

Autori: L. Šabová ¹; Z. Blusková ¹; D. Virgová ²; V. Cingel ³; J. Porubský ⁴; Ľ. Košťálová ¹
Pôsobisko autorov: 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
Vyšlo v časopise: Čes-slov Pediat 2010; 65 (3): 110-116.
Kategória: Kazuistika

Súhrn

Ide o pacientku odoslanú na vyšetrenie do endokrinologickej ambulancie vo veku 15 rokov pre znížený rast a nenastupujúcu pubertu. Habitus dieťaťa vrátane vonkajšieho genitálu bol dievčenský. V ultrasonografii a MRI malej panvy sa jednoznačne nezobrazili ováriá, bola popísaná len prítomnosť uteru. Laboratórne sa zistili vysoké hladiny gonadotropínov LH aj FSH a nízky estradiol a testosterón, v genetickom vyšetrení karyotyp 46,XY. Laparoskopia dokázala hypoplastický uterus a na oboch stranách štruktúry túb a paratubárnych tkanív. Tkanivo ovárií ani testes sa nepotvrdilo ani histologicky.

Na základe vyšetrení sa stanovila diagnóza Swyerovho syndrómu (čistá gonadálna dysgenéza), ktorý patrí do skupiny porúch sexuálnej diferenciácie. U pacientky sa navodzuje puberta malými dávkami estrogénov a pre znížený rast, ktorý bol na podklade SGA (dieťa narodené malé vzhľadom na gestačný vek), je liečená rastovým hormónom.

Kľúčové slová:
Sweyerov syndróm, čistá gonadálna dysgenéza, znížený vzrast, oneskorený nástup puberty

Zdroje

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