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.
Department of Endocrinology and Metabolism, Kayseri Training and Research Hospital, Kayseri, Turkey. cumaligokce@yahoo.com
C
C
Gokce
M E
ME
Atabek
E M
EM
Atabek
L
L
Kaynar
E
E
Torun
S
S
Kurtoglu
F
F
Bayram
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