Kallmann’s syndrome is the most common form of isolated gonadotropin deficiency and occurs in 1: 10 men and 000: 1 women. Both the sporadic and autosomal dominant, autosomal recessive and recessive forms associated with the X chromosome have been described (the latter patients have mutations in the KAL gene). Hypogonadism results from a GnRH secretion deficit of varying degrees, and anosmia is caused by aplasia or hypoplasia of the olfactory bulb.
In the clinical picture of Kallmann’s syndrome, apart from hypogonadism with lowered gonadotropin concentration and olfactory disorders, synkinesia, spastic paraplegia, nystagmus, mental retardation, and color blindness are observed. Kidney defects and cleft palate have also been reported. Diagnosis of Kallmann’s syndrome before puberty is practically impossible due to the physiologically low levels of gonadotropins in this period of life. Delayed maturation in this syndrome requires differentiation from KOWR. Disturbance in the sense of smell may be a differentiating symptom.
Source: A. Cajdler-Łuba, S. Mikosiński, A. Sobieszczańska-Jabłońska, I. Nadel, I. Salata, A. Lewiński: “FUNCTIONAL DIAGNOSTICS OF HORMONAL DISORDERS WITH ELEMENTS OF DIFFERENTIAL DIAGNOSTICS; Czelej Publishing House