DIAGNOSIS OF X-RECESSIVE KALLMANN SYNDROME IN EARLY INFANCY - EVIDENCE OF HYPOPLASTIC RHINENCEPHALON

Citation
R. Birnbacher et al., DIAGNOSIS OF X-RECESSIVE KALLMANN SYNDROME IN EARLY INFANCY - EVIDENCE OF HYPOPLASTIC RHINENCEPHALON, European journal of pediatrics, 153(4), 1994, pp. 245-247
Citations number
12
Categorie Soggetti
Pediatrics
ISSN journal
03406199
Volume
153
Issue
4
Year of publication
1994
Pages
245 - 247
Database
ISI
SICI code
0340-6199(1994)153:4<245:DOXKSI>2.0.ZU;2-W
Abstract
A 3-month-old infant presented with hypogonadism, a small penis and bi lateral cryptorchidism. He showed an insufficient response of luteotro pic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorion ic gonadotrophin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination s howed hypoplasia of the rhinencephalon in both cases. These findings i n the son and brother of the clinically unaffected mother suggest X-li nked recessive inheritance.