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Record W4416855373 · doi:10.15690/vsp.v24i5.2957

Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study

2025· article· W4416855373 on OpenAlex
Vladislav V. Ivanchikov, Totuy K. Eldarova, Andrey D. Gudis, Eduard Т. Ambarchian, Anastasia D. Kuzminova, Alexander I. Materikin, V. M. Popova, Natalia V. Zhurkova, Nato D. Vashakmadze, Е. В. Иванникова, Yulia V. Tikhonovich, Nataliya G. Ovsyanik

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueВопросы современной педиатрии · 2025
Typearticle
Language
FieldBiochemistry, Genetics and Molecular Biology
TopicSkin and Cellular Biology Research
Canadian institutionsChildren’s Health Research Institute
Fundersnot available
KeywordsHypopituitarismShort statureGrowth hormone deficiencyAdverse effectAtopic dermatitisGrowth hormone

Abstract

fetched live from OpenAlex

Background . Netherton syndrome is a genetic disease characterized by combination of ichthyosiform erythroderma, hair growth abnormalities, and severe atopic dermatitis with a high total IgE levels in the blood serum. However, beside the described “triad", patients with Netherton syndrome can have growth and physical development delays. In most cases, it is associated with severe course of the underlying condition, but in some cases, the cause of short stature is hypopituitarism with somatotropin deficiency. Case description . The patient with confirmed Netherton syndrome was hospitalized with physical development delay and short stature, as well as a severe course of the underlying disease with ichthyosiform erythroderma development. Patient was administered with IL-4/13 inhibitor, dupilumab, according to the off-label indication due to severe Netherton’s syndrome course. Additional examination has revealed comorbid hypopituitarism with isolated somatotropin deficiency. Growth hormone therapy was prescribed. As a result of such combined treatment, we have achieved significant improvement in the patient’s condition. No clinically significant adverse events have been reported during therapy. Conclusion. Physical development delay in patients with Netherton syndrome is the reason for conducting research on the short stature causes. The combination of growth hormone therapy with genetically engineered biologic drug dupilumab is effective and safe, however, it requires multidisciplinary approach to the management of such patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.406
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.266
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it