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

被引：21

作者：

BIRNBACHER, R

WANDLVERGESSLICH, K

FRISCH, H

机构：

[1] UNIV HOSP VIENNA,DEPT PAEDIAT ENDOCRINOL,A-1090 VIENNA,AUSTRIA

[2] UNIV VIENNA,INST MR,A-1090 VIENNA,AUSTRIA

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1994年 / 153卷 / 04期

关键词：

KALLMANN SYNDROME; X-RECESSIVE INHERITANCE; HYPOPLASTIC OLFACTORY SULCI; RHINENCEPHALON; MR-IMAGING;

D O I：

10.1007/s004310050128

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 3-month-old infant presented with hypogonadism, a small penis and bilateral cryptorchidism. He showed an insufficient response of luteotropic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorionic gonadotrophin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination showed hypoplasia of the rhinencephalon in both cases. These findings in the son and brother of the clinically unaffected mother suggest X-linked recessive inheritance.

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页码：245 / 247

页数：3

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