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isolated congenital growth hormone deficiency (ICGHD) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

isolated congenital growth hormone deficiency

MONDO:0000050

Also known as:ICGHDIGHDcongenital IGHD

Find Clinical TrialsTrials

Overview

Treatments4 FDA approved

Clinical Trials2 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Males with X-linked agammaglobulinemia (XLA) are usually well for the first few months of life because they are protected by transplacentally acquired maternal immunoglobulin. Typically, affected males develop recurrent bacterial infections in the first two years of life and are recognized as having immunodeficiency before age five years . Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

X-linked agammaglobulinemia (XLA) should be suspected in probands with the following clinical, laboratory, and family history findings.

Clinical findings

Recurrent otitis, pneumonitis, sinusitis, and conjunctivitis starting before age five years
A severe life-threatening bacterial infection such as sepsis, meningitis, cellulitis, or empyema

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

4 FDA-approved treatments are available for isolated congenital growth hormone deficiency, including SOMATROGON-GHLA (NGENLA, approved 2023), LONAPEGSOMATROPIN-TCGD (SKYTROFA, approved 2021), and SOMAPACITAN-BECO (SOGROYA, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

X-Linked Agammaglobulinemia: Recommended Surveillance

System/Concern | Evaluation | Frequency

Immunodeficiency

| • CBC w/differential

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

10 publications have been identified in PubMed for isolated congenital growth hormone deficiency. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (20%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	3	30%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Growth Hormone Deficiency Fund

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:631

GARD

Genetic and Rare Diseases Info Center

GARD:12556

Questions for Your Care Team

→What are the benefits and potential side effects of NGENLA for managing isolated congenital growth hormone deficiency?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

X-linked agammaglobulinemia (XLA) is the most common cause of agammaglobulinemia, accounting for approximately 85% of individuals with early onset of infections, panhypogammaglobulinemia, and markedly reduced numbers of B lymphocytes (CD19+ cells) in the peripheral circulation (2%) . The majority of females with an XLA-like phenotype and males with an XLA phenotype who do not have an identifiable BTK pathogenic variant are likely to have defects in other genes required for normal B cell development . These forms of agammaglobulinemia are very rare. Individuals with agammaglobulinemia caused by pathogenic variants in genes other than BTK cannot be distinguished by routine clinical or laboratory tests from individuals with XLA . These disorders should be considered in females who have an XLA-like phenotype or in males who were presumed to have XLA but who do not have a pathogenic variant in BTK. Families with a known history of consanguinity are more likely to have rare autosomal recessive forms of agammaglobulinemia than XLA. The underlying defect remains unknown in a small percentage of individuals with congenital agammaglobulinemia and absent B cells . Table 2. X-Linked Agammaglobulinemia: Genes of Interest in the Differential Diagnosis of Congenital Agammaglobulinemia and Absent B Cells

Gene1	Disorder1	MOI
BLNK	BLNK deficiency	AR
CD79A	Ig alpha (Ig) deficiency	AR
CD79B	Ig beta (Ig) deficiency	AR
FNIP1	FNIP1 deficiency	AR
IGHM	Mu heavy chain deficiency2	AR
IGLL1	Lambda 5 (5) deficiency	AR
PIK3CD	p110 delta (p110) deficiency	AR
PIK3R1	p85 deficiency	AR
SLC39A7	SLC39A7 (ZIP7) deficiency	AR
SPI1	PU1 deficiency	AD
TCF3	E47 transcription factor deficiency	ADAR
TOP2B	Hoffman syndrome/ TOP2B deficiency	AD AD = autosomal dominant, AR = autosomal recessive; MOI = mode of inheritance 1. , At least 30 individuals with more than 20 different pathogenic variants in IGHM have been reported .

Source: GeneReviews — "X-Linked Agammaglobulinemia"

GeneReviews

Management Guidelines

No clinical practice guidelines specific for X-linked agammaglobulinemia (XLA) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with XLA, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. X-Linked Agammaglobulinemia: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Respiratory	Baseline chest sinus radiographs	Baseline pulmonary function tests
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of XLA to facilitate medical personal decision making CBC = complete blood count; CRP = C-reactive protein; MOI = mode of inheritance; XLA = X-linked agammaglobulinemia 1.
X-Linked Agammaglobulinemia: Targeted Therapy Treatment Class	Treatment	Considerations/Other
Replacement therapy	Gammaglobulin substitution therapy (by weekly subcutaneous injection or intravenous infusion every 2-4 weeks) to prevent bacterial infections	Mainstay of treatment for persons w/XLA Gammaglobulin substitution therapy is the mainstay of treatment for individuals with XLA. Most individuals in the United States are given approximately 400 mg/kg of gammaglobulin every four weeks.
X-Linked Agammaglobulinemia: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Acute infections	Antibiotic treatment that is at least twice as long as that used in otherwise healthy persons	Generous use of antibiotics is recommended treatment should be given w/o unnecessary delay.
Risk of bacterial infections	Prophylactic antibiotics are used in some centers for prevention of bacterial infections.	Amoxicillin combined w/clavulanic acid (an inhibitor of beta-lactamase enzyme) can be used, or alternatively sulfamethoxazole trimethoprim. Ciprofloxacin may be used as a third option. Vaccines, apart from live vaccines, are recommended.1
Risk assoc w/live vaccines	Children w/XLA should only be given inactivated polio vaccine (IPV).	The sibs of children w/XLA should also be given IPV rather than oral polio vaccine (OPV) to avoid infecting their affected sib w/live polio virus. 1.

Source: GeneReviews — "X-Linked Agammaglobulinemia"

Kisho

isolated congenital growth hormone deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Immunodeficiency

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Respiratory

Recent Publications

isolated congenital growth hormone deficiency

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Immunodeficiency

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Respiratory

Recent Publications