Der Hypogonadismus im Knaben- und Mannesalter

Nowakowski, H

doi:10.1007/978-3-642-94744-5_5

Cited by 8 publications

(1 citation statement)

References 198 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The authors surmized that the disorder was inherited as an X-linked trait and was transmitted from mother to son. NOWAKOWSKI and LENZ (10,11) doubted that color blindness was another part of the syndrome. Analysis of the pedigrees showed that daltonism was almost as frequent in unaffected as in affected members.…”

mentioning

confidence: 99%

Hypogonadotropic Hypogonadism with Anosmia

2009

View full text Add to dashboard Cite

The association of agenesis of the olfactory lobes and eunuchoidism has been known for many years. Already in 1856, MAESTRE DE SAN JUAN reported a case of a man with "falta total de 10s nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de 10s testiculos y miembro viril" (9). Later several descriptions of the same entity can be found in the literature (1, 8,12, 13,15). Thirty cases of agenesis of the olfactory lobes collected from the world literature and one own case were studies by DE MORSIER (2) in 1955. As the concurrence of this malformation and eunuchoidism was frequently observed, he introduced the terminology d y s p 1 a s i e o 1 f a c t og 6 n it a 1 e. Three other cases reported by GAUTHIER showed hypoplasia in various degrees of the hypothalamus (3). KALLMANN et al. (7) in 1944 were the first to draw attention to the genetic aspects of this entity. Familial incidence of hypogonadism was demonstrated in three out of fortytwo families. In these three families they found eleven male patients with hypogonadism. In each family eunuchoidism was found to be associated with color blindness, anosmia, synkinesia and mental defect. Anosmia and synkinesia were not found in the absence of eunuchoidism, whereas color blindness and mental deficiency occurred in both eunuchoid and non-eunuchoid members of the affected families. The association of eunuchoidism and anosmia was interpreted as a causal rather than a coincidental relationship. The authors surmized that the disorder was inherited as an X-linked trait and was transmitted from mother to son. NOWAKOWSKI and LENZ (10, 11) doubted that color blindness was another part of the syndrome. Analysis of the pedigrees showed that daltonism was almost as frequent in unaffected as in affected members. The latter authors studies seven cases of anosmia with typical secondary hypogonadism, proved by testicular biopsy and urinary gonadotropin excretion. They interpreted the inheritance as a dominant sex-limited gene or a recessive sex-linked gene.Out of 13 patients with hypogonadism studied by HENKIN (4), seven patients with hypogonadotropic hypogonadism had detection tresholds for the odors of several substances 105-107 times higher than normal, while tresholds for taste modalities were normal. Treatment with chorionic gonadotropins, testosterone or estrogens did not alter the detection levels of smell. HOCKADAY (5) described two male patients with the association of life-long anosmia and secondary hypogonadism and drawed attention to the importance of this diagnosis for prognosis. SPARKES e t al. (14) reported hypogonadotropic hypogonadism with anosmia in two brothers and a half sister, related by the same mother. The data from the literature and from their own cases were interpreted as suggesting inheritance, probably as an X-linked trait. The genetic defect is thought to affect the hypothalamus 40 JAN PEEKS, OMEK STEENO and PIETER DE MOOK either indirectly by a protein which is biochemically i m p o r t a n t both to olfactory a n d c...

show abstract

mentioning

confidence: 99%