Testis and epididymis
Intersex syndromes
Gonadal dysgenesis - mixed

Author: Turki Al-Hussain, M.D. (see Authors page)

Revised: 6 April 2017, last major update September 2012

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Gonadal dysgenesis [title] mixed

Cite this page: Gonadal dysgenesis - mixed. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisgonadalmixed.html. Accessed September 24th, 2017.
Definition / general
  1. Testis plus contralateral streak gonad -OR-
  2. Testis and contralateral gonadal agenesis -OR-
  3. Hypoplastic gonads with tubules in one gonad -OR-
  4. 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