Literature DB >> 21918848

[Kallmann syndrome].

A Mokosch1, C Bernecker, H S Willenberg, N J Neumann.   

Abstract

The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia.

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Year:  2011        PMID: 21918848     DOI: 10.1007/s00105-011-2237-3

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  4 in total

1.  A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.

Authors:  Shilin Zhang; Tao Wang; Jun Yang; Zhuo Liu; Shaogang Wang; Jihong Liu
Journal:  Fertil Steril       Date:  2010-12-18       Impact factor: 7.329

Review 2.  Kallmann syndrome: towards molecular pathogenesis.

Authors:  J P Hardelin
Journal:  Mol Cell Endocrinol       Date:  2001-06-20       Impact factor: 4.102

3.  Outcome of gonadotropin therapy for male hypogonadotropic hypogonadism at university affiliated male infertility centers: a 30-year retrospective study.

Authors:  Yasushi Miyagawa; Akira Tsujimura; Kiyomi Matsumiya; Tetsuya Takao; Akira Tohda; Minoru Koga; Masami Takeyama; Hideki Fujioka; Shingo Takada; Takuo Koide; Akihiko Okuyama
Journal:  J Urol       Date:  2005-06       Impact factor: 7.450

4.  Therapy with human chorionic gonadotrophin alone induces spermatogenesis in men with isolated hypogonadotrophic hypogonadism--long-term follow-up.

Authors:  E Vicari; A Mongioì; A E Calogero; M L Moncada; G Sidoti; P Polosa; R D'Agata
Journal:  Int J Androl       Date:  1992-08
  4 in total
  1 in total

Review 1.  A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART).

Authors:  Eisa Tahmasbpour; Dheepa Balasubramanian; Ashok Agarwal
Journal:  J Assist Reprod Genet       Date:  2014-08-13       Impact factor: 3.412

  1 in total

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