Introduction: Dysgonosomies are abnormalities of the number of gonosomes X and Y. They have fewer Phenotypic repercussions than the aneuploidies involving autosomes, and are mostly viable. The 47 XYY are generally boys with normal phenotype. The prevalence is around 1 per 1000 birth boy but undoubtedly under diagnosed given the often normal phenotype associated with this chromosomal formula, in addition to the lack of large-scale studies. There is no gonadal dysgenesis and often no infertility or criminality in the past.
Case report: Our case is a 48 years old patient consulting for primary hypofertility. The anamnesis finds a type 2 diabetes, High blood pressure, orchi-epididymitis at the age of 34 and bilateral unaccompared varicosele and hydrocele. The patient is an active smoker. Clinically, he is an over weighted patient (BMI: 27kg/m square) with 180 cm height.No other dysmorphia is noted. In the Spermogram, we find an azoospermia (00 SPZ), with 1 CC of ejaculation volume. Scrotal ultrasound shows a normal-sized testicles with micro calcifications in the epididymis tail with varicocele and bilateral hydrocele. An Epididymis Cytoponction recovering SPZ (without cryopreservation)
The hormonal status is:
FSH: 1.65 mIU/ml (0.9511.95)
LH: 2.40 mIU/ml (0.5712.07)
Testosterone: 5.65 ng/ml (1.429.23) or a correct gonadal assessment
Inhibin B 215.4 ng/ml (11.5368.9) predicting the presence of SPZ in the biopsy
Caryotype 46 XY/47 XYY
The clinical examination and the exploration of the 31 years old partner is without anomalia.
The patient is programmed for testicular biopsy in the optic of a possible ICSI.
Conclusion: It appears that many men with 47,XYY syndrome will likely have decreased fertility potential. These patients may ultimately require assisted reproductive techniques in order to achieve pregnancy
18 - 21 May 2019
European Society of Endocrinology