ABSTRACT
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Subject(s)
Humans , Urogenital Abnormalities/diagnosis , Testis/abnormalities , Gonadal Disorders/embryology , Gonadal Dysgenesis/complications , Gonadal Dysgenesis/diagnosis , Disorders of Sex Development/diagnosis , Sex Chromosome Disorders of Sex Development/diagnosis , BiopsyABSTRACT
Macroorchidism is a rare condition in children and is usually associated with fragile X syndrome. Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency. Bilateral macroorchidism can be a normal variant in adult men. We report the case of an 11.5-year-old boy who was referred to our hospital for evaluation of marked bilateral testicular enlargement in the previous few months. Physical examination revealed a testicular volume larger than 30 ml. Complementary investigations allowed us to rule out all hitherto reported etiologies of bilateral macroorchidism and therefore a diagnosis of idiopathic macroorchidism was established. The increased number of Sertoli cells found on biopsy, without elevated plasma FSH levels, prompted us to speculate about a hypothetical FSH receptor hyperfunction as a possible cause of the exaggerated testicular enlargement in this patient.
Subject(s)
Testicular Diseases/pathology , Child , Humans , Male , Receptors, FSH , Sertoli Cells , Testicular Diseases/metabolismABSTRACT
El macroorquidismo es una entidad poco frecuente en niños y que suele aparecer formando parte del síndrome X frágil. Otras posibles etiologías son el hipotiroidismo primario de larga evolución, los restos adrenales en la hiperplasia suprarrenal congénita, los macroadenomas secretores de hormona foliculoestimulante (FSH), los tumores locales, los linfomas o el déficit de aromatasa. En adultos el macroorquidismo bilateral puede constituir una variante de la normalidad. Presentamos el caso de un niño de 11,5 años remitido a nuestro hospital por haber presentado en los últimos meses un llamativo aumento bilateral del tamaño testicular. En la exploración física se objetivó un volumen testicular mayor de 30 ml. Las pruebas complementarias realizadas permitieron descartar las entidades hasta ahora descritas como causantes de macroorquidismo. Por tanto, se estableció el diagnóstico de macroorquidismo idiopático. La hiperplasia de células de Sertoli hallada en la biopsia testicular, sin existir concentraciones plasmáticas elevadas de FSH, induce a especular sobre una hipotética hiperfunción del receptor de la FSH como responsable del exagerado crecimiento testicular que este paciente presentaba
Macroorchidism is a rare condition in children and is usually associated with fragile X syndrome. Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency. Bilateral macroorchidism can be a normal variant in adult men. We report the case of an 11.5-year-old boy who was referred to our hospital for evaluation of marked bilateral testicular enlargement in the previous few months. Physical examination revealed a testicular volume larger than 30 ml. Complementary investigations allowed us to rule out all hitherto reported etiologies of bilateral macroorchidism and therefore a diagnosis of idiopathic macroorchidism was established. The increased number of Sertoli cells found on biopsy, without elevated plasma FSH levels, prompted us to speculate about a hypothetical FSH receptor hyperfunction as a possible cause of the exaggerated testicular enlargement in this patient
Subject(s)
Male , Child , Humans , Testicular Diseases/pathology , Receptors, FSH , Sertoli Cells , Testicular Diseases/metabolismABSTRACT
Hyalinizing trabecular adenoma (HTA) is a follicle-derived tumor of the thyroid gland that has been described recently. The differential diagnosis includes medullar carcinoma, papillary carcinoma, and paraganglioma of the thyroid. We report a case of thyroid HTA in a 25-year-old woman. The tumor appeared as a <
Subject(s)
Adenoma/pathology , Hyalin/metabolism , Thyroid Neoplasms/pathology , Adenoma/surgery , Adult , Diagnosis, Differential , Female , Humans , Stromal Cells/pathology , Thyroid Neoplasms/surgeryABSTRACT
Macro-orchidism (MO) is the increase of the testicular volume, up to 25 ml in the adult male. It is frequently associated with mental retardation (MR) with fragile X-chromosome (FXC) (Martin-Bell syndrome). Sometimes it is of unknown origin and is called "benign idiopathic macro-orchidism" (BIMO). MO has also been described in association with bilateral testicular tumors, idiopathic precocious puberty, juvenile hypothyroidism and, more rarely, with congenital testicular cysts (cystic testicular dysplasia) and testicular microlithiasis in a patient treated with GH. The most common presentation is MR associated with MO, with positive or negative FXC. Among MO with MR and FXC-marfanoid habitus patients have been described and in the Atkin-Flaitz syndrome patients. Management of MO must be conservative in all cases and testicular biopsy must only be performed to diagnose leukemic infiltration or carcinoma in situ (CIS), or as the last fertility diagnostic test in BIMO. A wide range of primary testicular lesions may histopathologically be found: preserved spermatogenesis tubes, only Sertoli cell pattern and complete tubular sclerosis. Interstitial edema, frequently implicated in the MO pathogeny, does not explain by itself the important increase in testicular volume. In our laboratory, we have demonstrated that the increment of the testicular volume in MO is associated with a significant increase in the length of the seminiferous tubules. MO may pathogenically be intimately related to some hormonal regulation mechanism or to a higher seminiferous tubule sensitivity to FSH.
Subject(s)
Testicular Diseases , Diagnosis, Differential , Dilatation, Pathologic , Humans , Incidence , Male , Testicular Diseases/diagnosis , Testicular Diseases/epidemiology , Testicular Diseases/therapyABSTRACT
Multiple series of undescended testes reported in the 1970's shown a significant decrease in spermatogonia content and tubular growth. After that most pediatric surgeons perform elective orchiopexy earlier. Pathologic studies in undescended testes shown significant complications. We studied 82 patients who were surgical treated between 1 to 13 years and we studied the tubular fertility index (TFI), mean of tubular diameter and Sertoli cells index (SCI). We found no correlation between age of patients and lesions. In our point of view the alterations of undescended testes is secondary to primary disease no to remain out of the scrotum. Current evidence suggests that the optimal time for performing orchiopexy is between four to seven years.
Subject(s)
Cryptorchidism/pathology , Adolescent , Age Factors , Child , Child, Preschool , Cryptorchidism/surgery , Humans , Infant , MaleABSTRACT
One case of renal venous thrombosis in a male foetus, born of a diabetic mother is reported. The intrauterine origin and the long age of the thrombosis were confirmed by pathologic studies. Some speculation about the etiopathogenic mechanisms of intrauterine renal venous thrombosis are made.
