Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.
Changes in more than 20 genes have been associated with Kallmann syndrome. Among the most common causes of the condition are mutations in the ANOS1, CHD7, FGF8, FGFR1, PROK2, or PROKR2 gene. In some cases, affected individuals have mutations in more than one of these genes. Additionally, researchers have identified mutations in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the disease on their own.
Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females.
When Kallmann syndrome is caused by ANOS1 gene mutations, the condition has an X-linked recessive pattern of inheritance. The ANOS1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to be present in both copies of the gene to cause the disorder. No females with two ANOS1 gene mutations have been reported in the medical literature. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Taneli Raivio practices in Helsinki, Finland. Raivio is rated as an Elite expert by MediFind in the treatment of Kallmann Syndrome. They are also highly rated in 12 other conditions, according to our data. Their top areas of expertise are Hypogonadotropic Hypogonadism, Kallmann Syndrome, Hypogonadism, Isolated Hypogonadotropic Hypogonadism, and Hormone Replacement Therapy (HRT).
Ravikumar Balasubramanian practices in Chidambaram, India. Balasubramanian is rated as an Elite expert by MediFind in the treatment of Kallmann Syndrome. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Hypogonadotropic Hypogonadism, Kallmann Syndrome, Hypogonadism, and Isolated Hypogonadotropic Hypogonadism.
Johanna Tommiska practices in Espoo, Finland. Tommiska is rated as an Elite expert by MediFind in the treatment of Kallmann Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Hypogonadotropic Hypogonadism, Kallmann Syndrome, Hypogonadism, Isolated Hypogonadotropic Hypogonadism, and Hormone Replacement Therapy (HRT).
Summary: Technologic advances (i.e. next generation sequencing technologies and novel bioinformatics approaches) have been drivers of scientific discovery and have deepened our understanding of the genetics and genomics of health and disease. In parallel, the falling cost of sequencing has led to screening moving from specialty clinics into the primary care setting. However, our ability to help patients an...
Summary: The investigators are seeking participants for a study of the role of kisspeptin in the reproductive system. Kisspeptin is a naturally occuring hormone in humans that stimulates the production of reproductive hormones. The investigators hypothesize that kisspeptin administration will be a useful tool for characterizing certain reproductive disorders.
Published Date: December 01, 2016Published By: National Institutes of Health