RESUMO
To categorize variant persistent müllerian-duct derivatives (MDD) in males and determine their related clinical presentations for further management, five male patients with retained MDDs from abnormal müllerian remnants were studied. They comprised one patient with persistent müllerian-duct syndrome, one with transverse testicular ectopia, two with mixed gonadal dysgenesis, and one with a müllerian-duct cyst. Removal of persistent müllerian-duct structures and genitoplasty were done in selected patients. Categorization of patients with persistent MDDs permits further understanding of the pathogenesis and facilitates the choice of treatment.
Assuntos
Criptorquidismo/embriologia , Disgenesia Gonadal Mista/embriologia , Hipospadia/embriologia , Ductos Paramesonéfricos/anormalidades , Testículo/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Criptorquidismo/cirurgia , Disgenesia Gonadal Mista/cirurgia , Humanos , Hipospadia/cirurgia , Lactente , Masculino , Procedimentos Cirúrgicos Urológicos MasculinosRESUMO
To introduce we report the embryological origin of the male genitals and we present the endocrine control of the sex phenotypic differentiation and the most important features of the sexual differentiation abnormalities (ambiguous genitalia of newborn, gonadal dysgenesis, chromosome anomalies). Subsequently we report the classification of cryptorchidism and its correlation with hormonal and histological abnormalities. Furthermore we tried to expose the various different thoughts about testicular descent, anomalies associated with cryptorchidism and implications with malignant degeneration and infertility. Finally we describe the Magenta hospital experience from 1972 to 1998 reporting the surgical procedures for undescended testicle and for scrotal anomalies.
Assuntos
Criptorquidismo , Transtornos do Desenvolvimento Sexual/embriologia , Escroto/anormalidades , Adolescente , Hiperplasia Suprarrenal Congênita/embriologia , Hiperplasia Suprarrenal Congênita/genética , Adulto , Síndrome de Resistência a Andrógenos/embriologia , Síndrome de Resistência a Andrógenos/fisiopatologia , Criança , Pré-Escolar , Criptorquidismo/complicações , Criptorquidismo/embriologia , Criptorquidismo/cirurgia , Suscetibilidade a Doenças , Transtornos do Desenvolvimento Sexual/classificação , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Desenvolvimento Sexual/cirurgia , Feminino , Disgenesia Gonadal Mista/embriologia , Disgenesia Gonadal Mista/genética , Hormônios Esteroides Gonadais/fisiologia , Humanos , Lactente , Infertilidade Masculina/etiologia , Itália/epidemiologia , Masculino , Modelos Biológicos , Escroto/embriologia , Diferenciação Sexual , Neoplasias Testiculares/etiologiaRESUMO
A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45,X/46,X,dic(Yp) chromosome constitution on peripheral blood cultures. Fibroblasts grown from both gonads showed the "normal" testicular tissue to have e 45,X/46,X,dic(Yp), whereas the cells from the streak gonad were all 45,X. The structure of the dic(Yp) chromosome was confirmed using non-isotopic in situ hybridization with Y centromere and Yp specific probes. On hormonal stimulation, testosterone levels rose by 50%. The "normal" testis was left in situ, but close follow up will be required in view of the malignant potential.
