Testis & epididymis


Gonadal dysgenesis-mixed

Topic Completed: 1 September 2012

Minor changes: 8 September 2020

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PubMed Search: Gonadal dysgenesis [title] mixed

Turki Al-Hussain, M.D.
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Cite this page: Al-Hussain T. Gonadal dysgenesis-mixed. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testisgonadalmixed.html. Accessed November 27th, 2021.
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
  • 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
Differential diagnosis
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