Disgenesia gonadal parcial (XY)
نویسندگان
چکیده
Introducción: los trastornos del desarrollo sexual se definen como afecciones congénitas en las que el sexo cromosómico gonadal o anatómico es atípico. Son anormalidades raras, ocurren 1 de cada 1000 a 4500 nacidos vivos.Dentro causas más comunes encuentran: la hiperplasia suprarrenal congénita debido deficiencia 21-hidroxilasa un individuo XX, mosaicismos involucra 45, X/46, XY tiene amplio espectro fenotípico y síndrome insensibilidad andrógenos XY. Las raras incluyen mutaciones genéticas (NR5A1, WT1 MAP3K1), 17-beta-hidroxiesteroide deshidrogenasa 5-alfa reductasa.Objetivo: objetivo este reporte caso, hacer énfasis riesgo aparición tumores malignos células germinales pacientes con disgenesia XY.Presentación caso: reporta caso paciente 24 años edad, fenotípicamente femenino, cariotipo 46 XY, ausencia genitales femeninos internos por hallazgos tomográficos testículos atróficos canal inguinal (extraídos porvía laparoscópica). Se describen características al examen físico, enfoque clínico terapéutico.Discusión conclusión: pueden tener incrementado gonadales. Para poder diagnóstico esta entidad, debe realizar abordaje multidisciplinario permita su clasificación exacta.
منابع مشابه
Familial XY gonadal dysgenesis.
Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...
متن کاملThe XY gonadal agenesis syndrome.
A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that ...
متن کاملPseudohermaphroditism due to XY gonadal absence syndrome.
A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release ...
متن کاملLaparoscopic Gonadectomy in 46,xy Gonadal Dysgenesis
We reported a case of a 17 year-old female, who presented with primary amenorrhea. She had normal female external genitalia and a 46,XY karyotype. Hormone profiles and laparoscopic findings confirmed a diagnosis of 46,XY gonadal dysgenesis (Swyer syndrome). Prophylactic gonadectomy was performed laparoscopically to prevent the risk of malignant germ cell tumor. Current management of this rare s...
متن کامل46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infan...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Revista Colombiana de Endocrinología, Diabetes & Metabolismo
سال: 2022
ISSN: ['2805-5853', '2389-9786']
DOI: https://doi.org/10.53853/encr.8.4.716