Achondroplasia Associated with Gonadal Dysgenesis  

Oleh:

Gokce, C. ; Atabek, M.E. ; Kaynar, L. ; Torun, E.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of International Medical Research vol. 36 no. 03 (May 2008), page 605-608.
Topik: Achondroplasia; Gonadal Dysgenesis

Ketersediaan

Perpustakaan FK Nomor Panggil: J11.K.2008.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage 5 (Tanner staging). Chromosomal analysis showed a 46XX karyotype. Skeletal X-ray showed small iliac wings and narrow sciatic notches. On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized. Physical examination and laboratory parameters revealed a diagnosis of hypergonadotrophic hypogonadism. To the authors’ knowledge, this is the first case of achondroplasia with gonadal dysgenesis discussed in the literature.

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