Achondroplasia associated with gonadal dysgenesis.
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.
Gokce
C
C
Department of Endocrinology and Metabolism, Kayseri Training and Research Hospital, Kayseri, Turkey. cumaligokce@yahoo.com
Atabek
M E
ME
Atabek
E M
EM
Kaynar
L
L
Torun
E
E
Kurtoglu
S
S
Bayram
F
F
D000130:Achondroplasia / Q000150:complications*; D000568:Amenorrhea / Q000150:complications; D001827:Body Height; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications*; D006728:Hormones / Q000097:blood; D006801:Humans; D008875:Middle Aged
D006728:Hormones