Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm

Long-term clinical course in three patients with <i>MAMLD1</i> mutations

“…Indeed, small testes during the pubertal period in patient 1 would imply spermatogenic impairment [14], and poor T responses to hCG stimulation and/or mild hypergonadotropinism in patients 1-3 would argue for adult Leydig cell dysfunction [14,15]. In addition, testicular microlithiasis in patients 1 and 3 may also imply the presence of non-specific testicular dysfunction, because it is often found in subjects with testicular tumors and spermatogenic failure as well as in patients with hypogonadism-associated disorders such as Down syndrome and Klinefelter syndrome [16][17][18][19]. Thus, the present data, in conjunction with the previous findings [1], suggest that MAMLD1 deficiency causes 46,XY DSD during the fetal life and, while it permits apparently normal T production in infancy to early childhood, results in deterioration of testicular function with compromised T production from mid-childhood.…”

Hemoptise em um paciente com microlitíase testicular e tumor de células germinativas: uma combinação rara

“…To our knowledge, there are only six published cases documenting an association between primary seminoma of the mediastinum and TM. (2)(3)(4)(5)(6)(7) Another aspect that made this case exceptional was that the initial symptom was hemoptysis, a feature that has been reported in less than 1% of patients with extragonadal GCTs affecting the mediastinum. (8) The patient was a 27-year-old, nonsmoking male construction worker with no family history of cancer.…”

“…As previously mentioned, only six such cases have been published to date. The first was described by Aizenstein et al in 1997. (2) The additional cases were reported between 1998 and 2002.…”

“…The first was described by Aizenstein et al in 1997. (2) The additional cases were reported between 1998 and 2002. (3)(4)(5)(6)(7) The characteristics of all seven cases (those six cases Table 1.…”

Testicular Microlithiasis: Another Starry Sky Appearance

“…Patients who do not meet the criteria for chronic TM, but have at least one microlith are considered to have limited TM. 2 TM has been associated in both benign and malignant conditions such as Klinefelter syndrome, 3 male pseudohermaphroditism, 4 Down syndrome, 5 subfertility, 6 infertility, 7 cryptorchism, 8 hypogonadism, 3 fragile X syndrome, 9 pseudoxanthoma elasticum, 10 and pulmonary microlithiasis. 11 Many of these benign conditions are risk factors for testicular malignancies.…”