Kallmann Syndrome Diagnosis
The term “kallman” (literally: “camel”) comes from the Old English word kalla (“cat”), which was used to refer to wild camels. The word came into use in the Middle Ages when it referred to a type of man with a long beard and hair.
These were called kallmen or kallemen. They lived in the desert areas of northern Africa and Europe. They had a high incidence of tuberculosis, but were not considered carriers because they did not have active TB disease. During this time, the term took on a more general meaning of “outsider”.
The syndrome was first described by American physicians Lionel Kallman and Alfred Hop-field in the early 1950s. They described nine patients of Yugoslavian or Greek origins between the age of 30 and 46.
The men did not have any of the usual signs of hypogonadism or primary gonadal failure. Blood tests showed low levels of testosterone and elevated levels of follicle-stimulating hormone (FSH). Kallman and Hopfield suggested the name “Mendelian Syndrome” for this condition because it appeared to be inherited, but without any of the other features of progeria or chromosomal abnormalities.
Gonadotropin levels are normal in Kallmann syndrome.
The main characteristics of this syndrome are as follows:
Hypogonadism, which causes infertility.
Absence of sense of smell (anosmia).
Abnormalities in the development of the eye which leads to poor vision.
Sources & references used in this article:
- CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome (MCJ Jongmans, CMA Van Ravenswaaij‐Arts… – Clinical …, 2009 – Wiley Online Library)
- Clues to an early diagnosis of Kallmann syndrome (JD Kaplan, JA Bernstein, A Kwan… – American journal of …, 2010 – Wiley Online Library)
- Kallmann syndrome (C Dodé, JP Hardelin – European Journal of Human Genetics, 2009 – nature.com)
- Kallmann syndrome: from genetics to neurobiology (EI Rugarli, A Ballabio – JAMA, 1993 – jamanetwork.com)
- Kallmann syndrome in women: from genes to diagnosis and treatment (B Meczekalski, A Podfigurna-Stopa… – Gynecological …, 2013 – Taylor & Francis)
- Diagnosis of X-recessive Kallmann syndrome in early infancy (R Birnbacher, K Wandl-Vergesslich… – European journal of …, 1994 – Springer)
- Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients (IH Pawlowitzki, P Diekstall, A Schadel… – American journal of …, 1987 – Wiley Online Library)