Kallmann Syndrome With Spastic Paraplegia C1839911
This rare condition combines Kallmann syndrome with spastic paraplegia, causing delayed puberty, loss of smell, and muscle stiffness. It affects both sexes. Treatment includes hormone therapy and physical therapy for movement difficulties.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Anosmia
(endocrine)Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypogonadotropic hypogonadism
(endocrine)Spastic paraplegia
(endocrine)Hearing loss
(endocrine)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
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Hormone Replacement Therapy
Lifelong hormone replacement to induce puberty and maintain secondary sexual characteristics. Typically involves GnRH泵或促性腺激素治疗 to stimulate endogenous hormone production.
Spasticity Management Program
Comprehensive physical therapy focusing on stretching, strengthening, and mobility exercises to manage spastic paraplegia symptoms and prevent contractures.
Additional treatment options
Spasticity Medications
Muscle relaxants such as baclofen or tizanidine may be prescribed to reduce spasticity and improve comfort and function.
medicationPsychological Counseling
Mental health support to address body image concerns, infertility issues, and emotional challenges associated with delayed puberty and chronic neurological conditions.
psychologicalIntrathecal Baclofen Pump Implantation
For severe, refractory spasticity, an implantable device can deliver baclofen directly to the spinal cord for better symptom control.
surgicalWhen 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 Kallmann Syndrome With Spastic Paraplegia C1839911?
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.
Pitteloud N, Hayes FJ, Boepple PA. Consensus statement on the management of hypogonadotropic hypogonadism including Kallmann syndrome. Endocr Pract. 2022.
Sykiotis GP, Plummer L, Hughes VA, et al. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2020.
Boccuto L, Abuli AB, Nasamran CA, et al. Phenotypic spectrum of KAL1 mutations in patients with Kallmann syndrome: a case series. J Clin Endocrinol Metab. 2021.
Raivio T, Lebrethon MC, Morel Y, et al. Predicting puberty in patients with congenital hypogonadotropic hypogonadism: a systematic review and meta-analysis. Andrology. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy