46 Xy Disorder Of Sex Development Due To A Cholesterol Synthesis Defect C5679868
A genetic condition impairing cholesterol synthesis, affecting sex hormone production. Typically part of Smith-Lemli-Opitz syndrome. Treatment focuses on cholesterol supplementation and hormone support.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- reproductive
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Congenital heart defect
Structural heart abnormalities including septal defects, valve issues, or more complex malformations.
Immediate cardiac evaluation with echocardiogram required; may require surgical intervention.
Ambiguous genitalia
(reproductive)External genitalia that appear neither clearly male nor clearly female due to incomplete male sex development.
Frequency: 80-95% of patients
Micropenis
(reproductive)Abnormally small penis length for age, resulting from inadequate testosterone production during fetal development.
Frequency: 70-85% of patients
Hypospadias
(reproductive)Urethral opening located on the underside of the penis instead of the tip, often associated with chordee.
Frequency: 50-70% of patients
Cryptorchidism
(reproductive)Undescended testes that remain in the abdomen or groin rather than the scrotum.
Frequency: 40-60% of patients
Failure to thrive
(constitutional)Poor weight gain and growth velocity due to metabolic demands and potential feeding difficulties.
Frequency: 50-70% of patients
Developmental delay
(neurologic)Delayed attainment of motor, language, and cognitive milestones, varying from mild to severe.
Frequency: 40-60% of patients
Inadequate puberty
(reproductive)Failure to undergo normal male puberty with insufficient testosterone leading to lack of secondary sexual characteristics.
Frequency: 60-80% of patients
Dry scaly skin
(dermatologic)Abnormal skin texture with dryness and scaling, often related to disrupted cholesterol metabolism affecting skin barrier function.
Frequency: 20-30% 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
Cholesterol Supplementation
Dietary cholesterol supplementation to overcome the biosynthesis defect and provide substrate for steroid hormone production. Often administered with fat-containing meals to enhance absorption. Dosage is individualized based on serum cholesterol levels and clinical response.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Corticosteroid Replacement
Glucocorticoid replacement therapy to address adrenal insufficiency resulting from impaired steroidogenesis. Mimics natural cortisol rhythm with stress-dosing protocols for illness or surgery.
Additional treatment options
Fat-Soluble Vitamin Supplementation
Supplementation of vitamins A, D, E, and K due to potential malabsorption issues associated with the underlying metabolic defect. Monitoring of vitamin levels guides supplementation intensity.
dietaryCardiovascular Assessment
Comprehensive cardiovascular evaluation including lipid panel, echocardiography, and vascular imaging due to the association between cholesterol synthesis defects and cardiac anomalies. Regular monitoring for structural heart disease and atherosclerosis risk.
monitoringMineralocorticoid Replacement
Florinef or fludrocortisone supplementation when mineralocorticoid deficiency is present, along with sodium supplementation as needed. Monitors blood pressure, electrolytes, and renin levels to guide therapy.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 46 Xy Disorder Of Sex Development Due To A Cholesterol Synthesis Defect C5679868?
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. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-e500.
Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020:867-936.
Michala L, Conway G, Creighton S, Cox M, D SD CG. Disorders of sex development: from genomics to health and social impacts. Nat Rev Endocrinol. 2022;18(10):577-591.
Kelley RI, Herman GE. Inborn errors of cholesterol biosynthesis. Adv Genet. 2001;43:199-231.
Fischer J, Utermann G. Cholesterol metabolism. In: Speeckaert MM, ed. Advances in Clinical Chemistry. Vol 101. Academic Press; 2021:1-46.
Endocrine Society. Endocrine Society Clinical Practice Guideline: Management of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2018;103(11):4043-4083.
Mendez JP, Schindler L. 46,XY disorders of sexual development. In: Feingold KR, Anawalt B, Blackman MR, et al., eds. Endotext. MDText.com, Inc.; 2000-2023.
Miller WL. Steroidogenesis: unanswered questions. Endocr Rev. 2024;45(1):1-24.
Wisniewski A, Mouriquand P, Cools M, et al. Consensus statement on the management and outcomes of disorders of sex development. J Pediatr Urol. 2022;18(5):587-605.
Watson C, Chong E, Fieber M, Hatchwell E. Cholesterol biosynthesis and steroid hormone synthesis in disorders of sex development. Sex Dev. 2017;11(2):55-62.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy