ESPE Abstracts

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency. It is characterized by absent or incomplete puberty with infertility due to inadequate secretion of LH and FSH. Inactivating mutations in KISS1R is transmitted as a recessive trait. It is also known as the GPR54 gene, and encodes a G-protein-coupled receptor or receptor for kisspeptins. The binding of kisspeptin to these receptors in the hypo- thalamus stimulates the release of GnRH, which in turn stimulates gonadotropin release CHH is one of the few treatable diseases of male infertility and we will review suggested approach for treatment.

Case presentation: 12 years old boy who was brought by his father to the clinic with complaint of delayed puberty, small penis length and small testicles. No history of anosmia or hyposmia. He did orchidopexy at age of 4 years. 1 year ago he did the GnRH stimulation test: Given decapeptyl for 0.1 mg sc at 8 and 3hrs and 24 hrs labs as follows: After 3 hrs: LH 2.36 miu/ml (0.04-7.8) FSH 10.93 miu/ml(0.3-6.8) After 24 hrs : LH 0.4 miu/ml (0.04-7.8) FSH 3.46 miu/ml (0.3-6.8) Later he used HCG in private hospital in 3 different times with no benefits Upon examination No dysmorphic feature were noted, his height was 75th-90th, his weight was 90th -95th. Strength penile length 5 cm. Testicles bilaterally descend smallish, testicular volume: Lt 1 ml, Rt 2 ml. WES Result: The familial pathogenic variant was identified in the KISS1R gene in homozygous state. The result is consistent with the genetic diagnosis of autosomal recessive hypogonadotropic hypogonadism type 8 with or without anosmia. VARIANT INTERPRETATION KISS1R, c.305T>C p.Leu102Pro.

Discussion: Our patient was approach to treat by FSH pretreatment to be followed by combined FSH and hCG therapy. After 6 months of FSH noticed increase Strength penile length to 5.8 cm and testicular volume: Right 4 ml and Left 3 ml.