Gonadal Dysgenesis

Published on 31/05/2015 by admin

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Last modified 31/05/2015

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Chapter 167 Gonadal Dysgenesis

INTRODUCTION

Description: Gonadal dysgenesis is a developmental abnormality of patients who do not carry the stigmata of Turner’s syndrome but still have absent menarche because of chromosomal abnormalities. These patients generally are tall (>150 cm), are more normal in appearance, and are a chromosomally heterogeneous group (46,XX, 46,XY, or mosaic X/XY karyotypes).
Prevalence: Appears in 1 of 2500 female births.
Predominant Age: Present at birth, may not be detected until puberty is delayed.
Genetics: Sporadic, loss of part or all of one X chromosome (amenorrhea more common with long arm loss; short stature with short arm loss).

ETIOLOGY AND PATHOGENESIS

Causes: Pure gonadal dysgenesis—45,XO (Turner’s syndrome); 46,XY gonadal dysgenesis (Swyer syndrome); 46,XX q5 X chromosome long-arm deletion, mixed or mosaic.
Risk Factors: Translocations involving the X chromosome (rare).

CLINICAL CHARACTERISTICS

Signs and Symptoms

(Based on the amount of chromatin lost.)

• Primary amenorrhea and infertility (the most common cause of failure to begin menstruation is gonadal dysgenesis; in approximately 60% of women with primary amenorrhea, an abnormality of gonadal differentiation or function has occurred during the fetal or neonatal period)
• Absent or grossly abnormal gonad development

DIAGNOSTIC APPROACH

Differential Diagnosis

• Polycystic ovary syndrome
• Hypothyroidism
• Growth hormone deficiency or glucocorticoid excess
• Androgen insensitivity syndrome (male pseudohermaphroditism, testicular feminization)
• Intersex abnormality
• Enzymatic defects (such as 17α-hydroxylase deficiency)
• Structural genital tract abnormalities (uterine and/or vaginal agenesis or an imperforate hymen)
• Ovarian insensitivity syndrome (resistant ovary [Savage’s] syndrome)
• Follicular depletion (autoimmune disease, infection [mumps], infiltrative disease processes [tuberculosis, galactosemia])

Associated Conditions: Amenorrhea, infertility, incomplete or abnormal external genitalia, and premature menopause.

Workup and Evaluation

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