Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for syndrome, but given characteristic appearance and reproducible features in people with a mutation ABCC9 gene, conventional clinical picture that may suggest diagnosis high probability. This publication presents case study two-week-old female patient who was qualified testing on basi...

Introduction. Kallmann syndrome is a genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Patients with have low circulating testosterone levels gonadotropin levels, whereas other pituitary hormones are normal. The treatment based on sex steroid replacement the aim to restore normal pubertal development includes attempts fertility using gonadotropin-releasing hormones. Ultrasou...

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR...

Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which similar interstitial deletions spanning exons 5 to 10 of the KAL-1 gene were identified. The pre...

Permanent primary congenital hypothyroidism (CH), the commonest cause of preventable intellectual disability, is due to defects in the embryonic development of the thyroid in the vast majority of cases. These defects are collectively called thyroid dysgenesis. The thyroid may be absent (athyreosis) but, more commonly, a sublingual thyroid ectopy without lateral lobes, is the only thyroid tissue...

Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of impairment of olfactory axon development and failure of migration of gonadotropin-releasing hormone (GnRH) neurons. Mode of inheritance can be autosomal dominant, autosomal recessive, or X-linked. We report a case o...