Avanços em Ética Médica
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Abstrato

Simultaneous Muiti-Gene Panel Analysis for Idiopathic Disease Hypogonadotropic Hypogonadism/Kallamann Disorders Diagnosis.

kenensia Nega

Hypogonadotropic hypogonadism and anosmia or hyposmia are characteristics of Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH), which is caused by aberrant migration of olfactory and gonadotropin-releasing hormone-producing neurons. The cause of KS/IHH has been linked to numerous genes. Sanger sequencing is a time- and money-consuming method for evaluating these genes sequentially. A reliable method in the clinical situation has been demonstrated to be the introduction of parallel multigene panel sequencing of small gene panels for the detection of causal gene variations. We describe two cases of hypogonadotropic hypogonadism with a PROKR2 gene and KAL1 gene mutation using multiplex PCR for the four gene KS/IHH panel followed by NGS. The individual who had the PROKR2 mutation had normal sense of smell and normal odour sensors on imaging. The affected individual has a hypoplastic olfactory bulb and anosmia.