Endocrine Abstracts

A 36 M seen in endocrinology clinic October 2022 with 9/12 history of reduced testicular size and hypo gonadal symptoms. He has a past medical history of suicidal ideation and urinary incontinence. On review of previous GP records from 2003 he was seen for delayed puberty, although the patient denied this in clinic. There was no history of testicular trauma or infection and he denied any history of exogenous steroid or recreational drug use. There was no significant family history. His partner did have a positive pregnancy in 2021 although miscarried this at an early gestation. The initial biochemical workup following his clinic visit revealed elevated FSH of 56.4 IU/l(RR 1.4 -18.1) and LH 23.6 IU/l(RR 1.5 -9.3) and testosterone of 8 nmol/l (RR 6.85 -23.23). The remaining pituitary profile was unremarkable. His clinical examination and radiological USS confirmed bilaterally small testicular volume and mild varicoceles. His height in clinic was 163 cm, weight, 62 kg and BMI 23.34 kg/m2. On review of the above results suggestive of primary hypogonadism he was subsequently consented for genetic chromosomal analysis. The results of this were consistent with male mosaic karyoptype with 2 cell lines. 50/62 cells displayed XY chromosome analysis and 12/62 X analysis with short arm of Y chromosome. He was subsequently referred to the specialist genetic clinic to discuss the implications of the results on fertility. The questions to discuss with this case is should we consider testosterone replacement as low end of normal results and with positive symptoms. What would be the impacts on fertility for this couple and the explanation of previous positive pregnancy?