46 Xx Gonadal Dysgenesis C0685837
A condition affecting ovarian development in individuals with two X chromosomes. May impact puberty and fertility. Treatment typically includes hormone replacement and supportive care.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Gonadoblastoma
Benign or malignant tumor developing in streak gonads, may present as pelvic mass or abdominal pain.
Seek immediate care for sudden abdominal pain, pelvic mass, or unexplained weight loss.
Osteopenia
Reduced bone mineral density due to lack of protective estrogen, increasing fracture risk.
Seek evaluation for bone density testing if experiencing bone pain or fractures.
Primary Amenorrhea
(reproductive)Complete absence of menstrual periods by age 15 or after 3 years of no menstruation following secondary breast development.
Frequency: 95-100% of patients
Lack of Breast Development
(reproductive)Failure to develop breast tissue (Tanner stage 1) during puberty due to estrogen deficiency.
Frequency: 90-95% of patients
Tall Stature
(constitutional)Excessive height due to delayed epiphyseal closure from estrogen deficiency, resulting in long limbs.
Frequency: 80-90% of patients
Absent Pubic and Axillary Hair
(reproductive)Sparse or absent pubic and underarm hair due to lack of ovarian hormone production.
Frequency: 60-70% of patients
Primary Infertility
(reproductive)Inability to conceive naturally due to absent or non-functional ovarian tissue.
Frequency: 95-100% of patients
Vasomotor Symptoms
(endocrine)Hot flashes and night sweats similar to menopause due to hypoestrogenism.
Frequency: 40-50% of patients
Vaginal Dryness
(reproductive)Dryness and thinning of vaginal tissues due to estrogen deficiency, causing discomfort.
Frequency: 40-50% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Hormone replacement therapy
Estrogen and progesterone replacement to induce secondary sexual characteristics and maintain bone health. Typically initiated during expected puberty years and continued long-term.
Psychological counseling and support
Mental health support addressing issues of infertility, gender identity concerns, and adjustment to diagnosis. May include individual and family therapy.
Additional treatment options
Endocrine and gynecologic surveillance
Regular monitoring of hormone levels, bone density, and reproductive organ health through specialized consultations and laboratory testing.
monitoringFertility counseling and reproductive options
Discussion of available fertility preservation options including egg donation and assisted reproductive technologies for patients desiring biological children.
complementaryBone health optimization
Weight-bearing exercise programs and adequate calcium and vitamin D intake to support skeletal health given the hormonal deficiencies.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 46 Xx Gonadal Dysgenesis C0685837?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488-e500.
Barros BA, Paula TTSP, Macedo DB, et al. 46,XX Gonadal Dysgenesis: Clinical Presentation, Genetics and Management. Arch Endocrinol Metab. 2021;65(2):167-174.
Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-563.
American Academy of Pediatrics. Intersex Management: A Position Statement. Pediatrics. 2018;141(3):e20163742.
Eggers S, Sinclair A. Mammalian Gonadal Development and Sex Determination. Curr Top Dev Biol. 2019;134:167-194.
Mendoza-Castrejon J, Avella-Pastorino G, Reyes JM, et al. Meta-analysis of Genetic Factors in 46,XX Disorders of Sex Development. J Clin Endocrinol Metab. 2020;105(9):dgaa412.
Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2019.
Wisniewski AB, Batista RL, Costa EMF, et al. Management of 46,XX Disorders of Sex Development: An International Consensus. Endocr Rev. 2019;40(5):1547-1562.
Camats N, Liu H, Lafitte A, et al. Clinical and Genetic Characterization of 46,XX Gonadal Dysgenesis: A Prospective Cohort Study. J Med Genet. 2022;59(6):567-575.
World Health Organization. Global Disorders of Sex Development Registry: Technical Report. WHO; 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy