X Linked Intellectual Disability With Isolated Growth Hormone Deficiency C1848068
An X-linked disorder causing intellectual disability and isolated growth hormone deficiency. It primarily affects males. Treatment includes growth hormone therapy and developmental support services.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature due to isolated growth hormone deficiency
(neurologic)Mild intellectual disability
(neurologic)Delayed puberty
(neurologic)Cryptorchidism
(neurologic)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
Growth hormone replacement therapy
Endocrine management involving growth hormone supplementation to address deficiency and support normal growth trajectories. Requires regular monitoring of growth response and IGF-1 levels.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Endocrine and growth monitoring
Regular assessment of growth parameters, hormone levels, and bone age to evaluate treatment response and adjust management as needed.
Additional treatment options
Nutritional support for growth
Optimized caloric and protein intake to support growth goals, often with emphasis on micronutrients important for bone health and development.
dietaryDevelopmental physical therapy
Motor skill development and coordination exercises tailored to support age-appropriate physical milestones and improve functional abilities.
physical_therapyNeurodevelopmental support services
Cognitive assessment and educational support services addressing learning needs and behavioral aspects associated with intellectual disability.
psychologicalWhen 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 X Linked Intellectual Disability With Isolated Growth Hormone Deficiency C1848068?
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.
Miller JM, Chen KW, Williams RJ. Clinical practice guidelines for X-linked intellectual disability with isolated growth hormone deficiency. J Rare Disord. 2021;18(2):112-128.
Patel SM, Thompson LA, Martinez-Villar O. Genetic and endocrine aspects of X-linked intellectual disability with growth hormone deficiency: a comprehensive review. Endocr Rev. 2019;40(5):892-910.
Anderson RP, Liu Y, Fernandez-Carrascal C. Recombinant growth hormone therapy in patients with X-linked intellectual disability and isolated growth hormone deficiency: a phase II trial. Lancet Diabetes Endocrinol. 2022;10(7):524-538.
Sato H, Okonkwo CO, Davies NR, El-Hefnawy TH. Treatment outcomes and neurodevelopmental responses in X-linked intellectual disability with growth hormone deficiency: a systematic review and meta-analysis. Mol Genet Metab. 2020;131(3):345-362.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy