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Table of Contents
Definition / general | Treatment | Microscopic (histologic) description | Microscopic (histologic) images | Differential diagnosisCite this page: Gonadal dysgenesis-mixed. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisgonadalmixed.html. Accessed July 15th, 2017.
Definition / general
- Testis plus contralateral streak gonad -OR-
- Testis and contralateral gonadal agenesis -OR-
- Hypoplastic gonads with tubules in one gonad -OR-
- Streak gonad with contralateral tumor
- Müllerian structures present since no / minimal AMH produced
- Usually bilateral fallopian tubes
- Usually incomplete masculinization of external genitalia, poor development of ipsilateral Wolffian duct structures
- External genitalia are male, female or ambiguous (ambiguous in most patients, 2/3 raised as female)
- Phenotypic females may develop signs of virilization at puberty
- Karyotypes: 45 X0 / 46 XY, 46 XY most common
- Associated with low immunoglobulin levels, aberrant bony development of inner ear structures, cardiovascular and renal anomalies
Treatment
- Early bilateral gonadectomy advocated if Y chromosome material is present to prevent gonadoblastoma (1/3) or other germ cell tumors; also to prevent virilization if patient is raised as female (Arch Pathol Lab Med 1990;114:679)
Microscopic (histologic) description
- Tubules with mild hypospermatogenesis to total sclerosis (Mod Pathol 2002;15:1013, Hum Pathol 1982;13:700)
- Streak gonad has ovarian stroma without primordial ovarian follicles
- Streak ovary has primitive sex cord-like structures within ovarian-type stroma, variable germ cell components, resembles either gonadoblastoma, granulosa cell or Sertoli cell tumors
Microscopic (histologic) images
Images hosted on other servers:
Mixed gonadal dysgenesis
Sex cord-like components
Differential diagnosis
- True hermaphroditism: histology is important in distinguishing, clinical features are not
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