ESPE Abstracts

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, information related to the disease is required. The objective is to provide data that can guide clinicians to reach the diagnosis in a timely manner and improve the quality of life and height prognosis of patients. Our 5 year-old male patient began at 3 years with pubarche, one year later, he presented with a pubertal growth spurt, 30 cm in a year (2-3 cm / month); increase in muscle mass and body hair. He also began with sexual interest and a rebellious attitude. Upon presentation his weight was 28.4 kg (Z score + 2.6 SD), height 130.6 cm (Z score + 4.64 SD), the physical examination revealed pubertal testes, Tanner stage 3, with a bilateral testicular volume of 8 cc, pubic hair at Tanner stage 3. The bone age was reported as 13 years. An approach was performed for precocious puberty, in which the central variety was ruled out with the measurement of baseline LH and stimulation curve with GnRH analogue. Genetic testing was done and the patient presents a heterozygous state of the pathogenic variant c.1118C>T (p.Ala373Val) located in the LHCGR gene (MIM *152790), which may be responsible for the patient's phenotype. As of now he is in treatment with anastrozole, bicalutamide, triptorelin and growth hormone. Being a very rare disease, the diagnosis can be delayed affecting the quality of life and prognosis of height of patients, so diagnostic suspicion and opportune management is important.