Kallmann-Syndrom

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.

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

“…Most patients have gonadotropin-releasing hormone (GnRH) deficiency. Clinically, it is characterized by low serum concentrations of testosterone (T), low levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) with normal prolactin levels, as well as delayed puberty, small testes, incomplete sexual maturation, lack of secondary sexual features, erectile dysfunction and absence of ejaculation, anemia and osteoporosis and sometimes even cryptorchidism [87,88]. Furthermore, testicular pathology displays a wide array of findings from SCSO to focal areas of complete spermatogenesis.…”

Comparing Women and Men’s Experiences with Kallmann Syndrome

“…KS-affected men lack the following physical developments at puberty: penis growth, the growth of testicles and muscles, pubic hair, axillary hair, and beard growth as well as voice break [17]. In addition, sperm agenesis is not initiated [17], and potency and libido are low for the affected men [9,[18][19][20]. Through substituting the testosterone that is lacking, pubertal body development can be initiated [11,20].…”

“…In addition, sperm agenesis is not initiated [17], and potency and libido are low for the affected men [9,[18][19][20]. Through substituting the testosterone that is lacking, pubertal body development can be initiated [11,20]. The treatment is carried out analogous to the treatment for Pubertas tarda, through the intake of 50 mg of testosterone enanthate every four weeks [11], increased to as much as 250 mg of T-enanthate every four weeks over a period of several years [11].…”

Leben mit dem Kallmann-Syndrom

“…Das Längenwachstum beim Mann wird vom KS nicht beeinflusst (Bliesener et al 2001;Hefne et al 2009). Neben diesen körperlichen Symptomen haben Betroffene häufig noch folgende psychische und physische Symptome: niedrige Libido und Potenz, depressive Stimmungslage und Stimmungsschwankungen, Abnahme der allgemeinen Aktivität, Antriebslosigkeit, Lustlosigkeit und Nachlassen der Muskelkraft (Dandona und Rosenberg 2010;Han und Bouloux 2010;Hefner et al 2009;Mokosch et al 2011).…”

“…Das KS beim Mann wird durch Testosteronsubstitution behandelt, die zu einer männlichen Körperentwicklung, zur Virilisierung, führt (Mokosch et al 2011;DGKJ 2011). Durch diese Substitution gehen die hier beschriebenen psychischen und physischen Symptome zurück und eine normale Körperentwicklung beginnt (Han und Bouloux 2010).…”