A case of olfactogenital dysplasia (Kallmann's syndrome) in females
https://doi.org/10.14341/probl200652126-27
Abstract
Kallman syndrome develops as a result of impaired migration of neuronal (gonadotropin-releasing hormone) -producing cells from the medial olfactory zone of the brain into the preoptic nuclei of the hypothalamus. Currently, the connection between the development of olfactogenital dysplasia and a mutation of a gene located in the region of the p. 22.3 of the X chromosome has been proved.
Clinically, olfactogenital dysplasia in women is manifested by primary amenorrhea and, as a result, by primary infertility. On examination, a physique of the eunuchoid type can be detected, moderate development of the mammary glands is rarely observed. In men - hypoplastic testicles, eunuchoid appearance is formed by adolescence (high growth, prepubertal testicles, infantile penis, complete absence of secondary sexual characteristics). This article presents the own results of a patient with Kallman syndrome.
About the Authors
M. В. BabarinaEndocrinology Research Centre
Russian Federation
A. V. Sekinayeva
Endocrinology Research Centre
Russian Federation
Ye. N. Giniyatullina
Endocrinology Research Centre
Russian Federation
L. Ya. Rozhinskaya
Endocrinology Research Centre
Russian Federation
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Review
For citations:
Babarina M.В., Sekinayeva A.V., Giniyatullina Ye.N., Rozhinskaya L.Ya. A case of olfactogenital dysplasia (Kallmann's syndrome) in females. Problems of Endocrinology. 2006;52(1):26-27. (In Russ.) https://doi.org/10.14341/probl200652126-27
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