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
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.
引用
收藏
页码:245 / 247
页数:3
相关论文
共 12 条
  • [1] INTRAGENIC DELETION OF THE KALIG-1 GENE IN KALLMANNS SYNDROME
    BICK, D
    FRANCO, B
    SHERINS, RJ
    HEYE, B
    PIKE, L
    CRAWFORD, J
    MADDALENA, A
    INCERTI, B
    PRAGLIOLA, A
    MEITINGER, T
    BALLABIO, A
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (26) : 1752 - 1755
  • [2] CLINICAL COUNTERPOINT - GONADOTROPIN-RELEASING-HORMONE DEFICIENCY - PERSPECTIVES FROM CLINICAL INVESTIGATION
    CROWLEY, WF
    JAMESON, JL
    [J]. ENDOCRINE REVIEWS, 1992, 13 (04) : 635 - 640
  • [3] DIAGNOSIS OF KALLMANNS SYNDROME IN EARLY INFANCY
    EVAINBRION, D
    GENDREL, D
    BOZZOLA, M
    CHAUSSAIN, JL
    JOB, JC
    [J]. ACTA PAEDIATRICA SCANDINAVICA, 1982, 71 (06): : 937 - 940
  • [4] A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES
    FRANCO, B
    GUIOLI, S
    PRAGLIOLA, A
    INCERTI, B
    BARDONI, B
    TONLORENZI, R
    CARROZZO, R
    MAESTRINI, E
    PIERETTI, M
    TAILLONMILLER, P
    BROWN, CJ
    WILLARD, HF
    LAWRENCE, C
    PERSICO, MG
    CAMERINO, G
    BALLABIO, A
    [J]. NATURE, 1991, 353 (6344) : 529 - 536
  • [5] Kallmann FJ, 1944, AM J MENT DEF, V48, P203
  • [6] MAGNETIC-RESONANCE-IMAGING OF THE BRAIN IN PATIENTS WITH ANOSMIA AND HYPOTHALAMIC HYPOGONADISM (KALLMANNS SYNDROME)
    KLINGMULLER, D
    DEWES, W
    KRAHE, T
    BRECHT, G
    SCHWEIKERT, HU
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1987, 65 (03) : 581 - 584
  • [7] PENILE SIZE AND GROWTH IN CHILDREN AND ADOLESCENTS WITH ISOLATED GONADOTROPIN DEFICIENCY (IGND)
    LARON, Z
    KAUSHANSKI, A
    JOSEFSBERG, Z
    [J]. CLINICAL ENDOCRINOLOGY, 1977, 6 (04) : 265 - 270
  • [8] LEE PA, 1980, JOHNS HOPKINS MED J, V146, P156
  • [9] SYNDROME OF ANOSMIA WITH HYPOGONADOTROPIC HYPOGONADISM (KALLMANN SYNDROME) - CLINICAL AND LABORATORY STUDIES IN 23 CASES
    LIEBLICH, JM
    ROGOL, AD
    WHITE, BJ
    ROSEN, SW
    [J]. AMERICAN JOURNAL OF MEDICINE, 1982, 73 (04) : 506 - 519
  • [10] BIOLOGY OF NORMAL LUTEINIZING-HORMONE-RELEASING HORMONE NEURONS DURING AND AFTER THEIR MIGRATION FROM OLFACTORY PLACODE
    SCHWANZELFUKUDA, M
    JORGENSON, KL
    BERGEN, HT
    WEESNER, GD
    PFAFF, DW
    [J]. ENDOCRINE REVIEWS, 1992, 13 (04) : 623 - 634