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Literature DB >> 8194555

Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.

R Birnbacher¹, K Wandl-Vergesslich, H Frisch.

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 gonadotropin. 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.

Entities: Chemical Disease Gene Species

Mesh：

Year: 1994 PMID： 8194555 DOI： 10.1007/bf01954511

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

11 in total

Review 1. Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode.

Authors: M Schwanzel-Fukuda; K L Jorgenson; H T Bergen; G D Weesner; D W Pfaff
Journal: Endocr Rev Date: 1992-11 Impact factor: 19.871

2. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

Authors: D Bick; B Franco; R J Sherins; B Heye; L Pike; J Crawford; A Maddalena; B Incerti; A Pragliola; T Meitinger; A Ballabio
Journal: N Engl J Med Date: 1992-06-25 Impact factor: 91.245

3. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Authors: B Franco; S Guioli; A Pragliola; B Incerti; B Bardoni; R Tonlorenzi; R Carrozzo; E Maestrini; M Pieretti; P Taillon-Miller; C J Brown; H F Willard; C Lawrence; M Graziella Persico; G Camerino; A Ballabio
Journal: Nature Date: 1991-10-10 Impact factor: 49.962

4. Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome).

Authors: D Klingmüller; W Dewes; T Krahe; G Brecht; H U Schweikert
Journal: J Clin Endocrinol Metab Date: 1987-09 Impact factor: 5.958

Review 5. Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases.

Authors: J M Lieblich; A D Rogol; B J White; S W Rosen
Journal: Am J Med Date: 1982-10 Impact factor: 4.965

Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.

Review 1. Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode.

2. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

3. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

4. Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome).

Review 5. Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases.

6. Diagnosis of Kallmann's syndrome in early infancy.

7. Cryptorchidism in a family with Kallmann's syndrome.

8. Penile size and growth in children and adolescents with isolated gonadotrophin defiency (IGnD).

9. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.

10. Micropenis. I. Criteria, etiologies and classification.

1. Brain changes in Kallmann syndrome.

2. Kallmann syndrome.

Review 3. [Kallmann syndrome. Fundamentals and two medical histories].

4. [Kallmann-de Morsier syndrome: about 3 cases].