Endocrine Abstracts

Although we know the gene alterations associated with KAL 2, at present we still do not know certain mutations of the fibroblast factor receptor 1 gene (FGFR gene) that even show complete penetrance of the syndrome. Kallman syndrome is a genetic disease of embryonic development characterized by the association of hypogonadotropic hypogonadism due to GnRH hormone deficiency because of agenesis or hypoplasia of the olfactory sulci. Three subtypes have been described; the classic or KAL1 linked to the X chromosome. The autosomal dominant form, KAL2, with the associated gene FGFR located at 8p11.2-p11.1, and the Kallman syndrome type 3 (KAL3). In this context, we present the case of a 14-year-old male patient who came to our clinic due to hypogonadism to affiliate. His personal history includes normal pregnancy, congenital right cryptorchidism diagnosed at 3 years of age, and anosmia from second childhood. In the directed anamnesis, no family history of interest with the diagnosis was found. At the time of the examination, he presented axilarchy. G1P sexual development, classified as grade II on the Tanner scale. Testicular volume of 1/2cc located in the inguinal canal. A Kallman-like Syndrome was suspected as the probable cause of the condition, and testicular ultrasound and cranial MRI were requested to complete the study. The testicular ultrasound described small-sized testicles for his age located in the most proximal part of the scrotal sac, impressing the horizontalized right testicle. In the cranial MRI, as pathological findings, an absence of the olfactory bulb and signs of hypoplasia of the olfactory grooves were observed, as well as a decreased adenohypophyseal gland in size. The analytical study with hormonal profile showed values of hypogonadism with decreased values of gonadal-stimulating hormones: FSH 0.3, LH 0.3, estradiol 5. Rest of hormonal profile was normal. A genetic study was requested to confirm the suspected diagnosis of Kallman Syndrome, being detected as a heterozygous carrier of c.983T>C (p.L3285) in the FGFR1 gene, which is associated with Kallman Syndrome type 2. The karyotype study did not show abnormalities. After genetic confirmation, treatment with intramuscular testosterone and evaluation of evolution in successive reviews was decided. With this case we confirm a new identifiable genetic finding for Kallman Syndrome type 2, this being the first report of said mutation related to idiopathic hypogonadotropic hypogonadism. The fact that the patient has no family history makes us think of a probable spontaneous mutation with complete syndrome penetrance.