ESPE Abstracts

Background: Hypogonadotorpic hypogonadism is a heterogeneous disease which is often accompanied by a variety of non-reproductive congenital phenotypes such as anosmia, synkinesia, deafness, renal or limbs malformations. The combination of hypogonadotropic hypogonadism with congenital defects is crucial to early diagnosis.

Result: Our patient is a 13,5-year-old boy. He was born at 39-40 weeks of gestation, birth length was 52 cm, weight was 3640 g. Left-sided cryptorchidism, micropenis, anosmia, hand synkinesis and agenesis of the left kidney were diagnosed just after birth. No endocrine disorders were revealed in relatives. Karyotype was 46, XY. Left-sided orchidopexy was performed at 11 years. Physical examination at 13,5 years: нeight 165,5 cm (SDS = +1,01), weight 55 kg, BMI 20,1 kg/m2 (SDS = +0,71). Sitting height was 81 cm (SDS = -0,42), leg length -84 cm (SDS = +2,51). Tanner stage 1 (G1, P1), testes were in scrotum. Their volume was 0,5 ml. Bone age was 13-14 years. Thyroid hormone and prolactine was normal. Basal serum gonadotropins and testosterone were low (LH 0,22 IU/l, FSH 0,66 IU/l, testosterone 0,904 nmol/l). LH after GnRH agonist stimulation was low. Testosterone after HCG stimulation increased up to 1,12 nmol/l. An area of reduced echogenicity in the left testicle measuring 4*2*4,5 mm was revealed via US. Brain MRI was normal. Testosterone and HCG therapy was initiated to initiate puberty and prevent eunuchoid body proportions. Due to the presence of hypogonadotropic hypogonadism, anosmia, synkinesis and agenesis kidney Kallman syndrome was suspected. The molecular genetic study of the ANOS gene revealed a hemizygous variant с.726+1G>C in exon 5 which was not described before. This variant was classified as likely pathogenic.

Conclusion: Association of congenital malformations, anosmia, synkinesis with reproductive phenotype (micropenis, cryptorchidism) may help to diagnose hypogonadotropic hypogonadism timely.