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Endocrine Abstracts (2019) 63 P314 | DOI: 10.1530/endoabs.63.P314

HCA, Alger, Algeria.


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 (0.95–11.95)

LH: 2.40 mIU/ml (0.57–12.07)

Testosterone: 5.65 ng/ml (1.42–9.23) or a correct gonadal assessment

Inhibin B 215.4 ng/ml (11.5–368.9) 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

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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