Endocrine Abstracts

Congenital hypogonadotropic hypogonadism is characterized by delayed or absent puberty and infertility due to abnormally low levels of gonadotropic hormones and sex steroids. The most common reason for its development is Kallmann syndrome - a rare congenital disorder resulting from impaired migration of GnRH-secreting neurons from the olfactory epithelium to the hypothalamus. It is associated with hyposmia and anosmia. In 1942 Klinefelter described 9 men with gynecomastia, sparse facial and body hair, small testes and inability to produce sperm. In 1959 the additional X chromosome was discovered - genotype 47, XXY, characteristic of the complete and most common form of Klinefelter syndrome. The classic phenotype includes low serum testosterone, high LH and FSH levels. We present clinical cases of two adolescents at age of 18th and 19th with history for diminished pubertal spurt, treated with recombinant gonadotropic hormones by the pediatricians by the age of sixteen. 18-years boy was diagnosed with microdeletion of Y-chromosome and the 19-years boy did not have genetic diagnostic determination. Both patients presented with hormonal constellation for hypogonadotropic hypogonadism, low volumes of testicles, diminished spermatogenesis. We performed kariotipazation and found disomy X- 47, XXY. Patients were referred to Sequence analysis and deletion/duplication testing of the 46 genes listed in the Genes Analyzed section for hypogonadotropic Hypogonadism Panel and found deletion of ANOS1 gene. That cases present a rare coincidence of two genetic states for both hypo- and hypergonadotropic hypogonadism. Key words: Hypogonadotropic hypogonadism, Kallmann syndrome, Klinefelter syndrome