Kallmann syndrome is a type of hypogonadotropic hypogonadism, associated with hyposmia or anosmia (reduced or absent sense of smell). A normal to low serum concentration of LH and FSH in the presence of low concentrations of the sex steroids and absence of any other hypothalamic or pituitary abnormalities is indicative of Kallmann syndrome.
The genetic defect involved in KAL1 is of the Kallmann Syndrome Interval Gene 1 (KALG1 or KAL1) gene on the X chromosome.
Abujbara et al. (2004) identified and studied a total of 32 patients (age of presentation: 4 to 46-years) with Kallmann syndrome, belonging to 12 different Jordanian and Palestinian families, over a period of 5-years. In two additional families, the X-linked mode of inheritance was shown to be most likely, since the affected males showed synkinesia with a negative family history.
In the older sister of a sib pair with complete androgen insensitivity, Gannagé-Yared et al. (2005) identified KS, together with synkinesia and multiple skeletal abnormalities.
Nabbout et al. (2009) reported the unusual case of an 18-year-old patient diagnosed with the coexistence of two X-linked inherited disorders, X-linked hypophosphatemic rickets (XLH) and Kallmann syndrome.
[See: Jordan > Abujbara et al., 2004]