Endocrine Abstracts

Chromosomal translocations or inversions, may cause spermatogenic failure. We present a case of a 35-years-old couple of identical twins: GD and GS. Both had criptorchidism and bilateral varicocele and underwent medical treatment first, and orchipexy and varicocelectomy subsequently at 7 years and 28 years respectively. GD at 31 years had left orchiectomy because of Leydig cell tumor. They were referred to our clinic for azoospermia and fatherhood desire. The patients were a n...

To study the efficacy of rhFSH treatment on male infertility we evaluated the response of 79 hypo-normogonadotrophic patients referring to our clinic for couple infertility after a period of not <12–18 months of finalized unprotected intercourse without conception. rhFSH 150 IU were given subcutaneously every other day for 12 months (mean 15±3 months). All men, between 23 and 56 years (mean 34±8 years), were divided into three subgroups: i) hypogonadotropic ...

The XX male syndrome, also called ‘de la Chapelle syndrome’, has been renamed as ‘46, XX testicular disorder of sex development’ (DSD) in 2006. It occurs in about 1/20 000 male newborns. We describe a 57-years-old male who referred to our andrological outpatient clinic because of erectile dysfunction. He was a smoker and suffered from 15 years of type 2 diabetes mellitus; he was also carrying a euthyroid multinodular goiter. The physical examination include...

Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.Objective: This study aims to examine the relation between early CAH diagnosis and cons...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...