Abstract
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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Abbreviations
- FSH :
-
follicle-stimulating hormone
- GnRH :
-
gonadotrophin releasing hormone
- LH :
-
luteotropic hormone
- LHRH :
-
luteotropic hormone releasing hormone
References
Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A (1992) Brief report: intragenetic deletion of the Kalig-1 gene in Kallmann's syndrome. N Engl J Med 326: 1752–1755
Crowley WF, Jameson JL (1992) Gonadotropin-releasing hormone deficiency: perspectives from clinical investigation. Endocr Rev 13: 635–640
Evain-Brion D, Gendrel D, Bozzola M, Chaussain JL, Job JC (1982) Diagnosis of Kallmann's syndrome in early infancy. Acta Paediatr Scand 71: 937–940
Franco B, Guilo S, Pragiola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG, Camerino G, Ballabio A (1991) A gene deleted in Kallmann syndrome shares homology with neural cell adhesion and axonal pathological finding molecules. Nature 353: 529–536
Kallmann RJ, Schoenfeld WA, Barrera SE (1944) The genetic aspects of primary eunuchodism. Am J Ment Defic 48: 203–236
Klingmüller D, Dewes W, Krahe T, Brecht G, Schweikert HU (1987) Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome). J Clin Endocrinol Metab 65: 581–584
Laron Z, Kaushanski A, Josefsberg Z (1977) Penile size and growth in children and adolescents with isolated gonadotrophin deficiency. Clin Endocrinol 6: 265–270
Lee PA, Mazur T, Danish R, Amrhein J, Blizzard RM, Money J, Migeon CJ (1980) Micropenis. I. Criteria, etiologies and classification. John's Hopkins Medic J 146 (4): 156–163
Lieblich JM, Rogol AD, White BJ, Rosen SW (1982) Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann's syndrome). Clinical and laboratory studies in 23 cases. Am J Med 73: 506–519
Schwanzel-Fukuda M, Jorgenson KL, Bergen HT, Weesner GD, Pfaff DW (1992) Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode. Endocr Rev 13: 623–634
Turner RC, Bobrow M, Bobrow LG, MacKinnon PCB, Bonnar J, Hockaday TDR, Ellis JD (1974) Cryptorchidism in a family with Kallmann's syndrome. Proc R Soc Med 67: 33–35
White BJ, Rogol AD, Brown KS, Lieblich JM, Rosen SW (1983) The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am J Med Genet 15: 417–435
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Birnbacher, R., Wandl-Vergesslich, K. & Frisch, H. Diagnosis of X-recessive Kallmann syndrome in early infancy. Eur J Pediatr 153, 245–247 (1994). https://doi.org/10.1007/BF01954511
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DOI: https://doi.org/10.1007/BF01954511