Main The pathogenesis is linked to impaired cortisol synthesis, a deficiency of which, through a feedback loop, stimulates ACTH secretion, leading to adrenal cortex hyperplasia and increased steroidogenesis. Moreover, the levels of not only those steroids formed in the stages preceding the blocked stage increase, but also those whose synthesis pathway bypasses the blocked stage. In many forms of congenital adrenal hyperplasia, adrenal androgen secretion also increases, leading to virilization in female patients. Therefore, congenital adrenogenital hyperplasia was previously called congenital adrenogenital syndrome. Objective. The objective is to present a clinical case of congenital adrenal cortical dysfunction, the virilizing – salt-wasting form, in a newborn infant. Methods. We present a clinical case of congenital adrenal cortical dysfunction, the virilizing – salt-wasting form, observed by the authors in a newborn infant. An analysis was performed on the patient's inpatient medical records and the results of clinical, laboratory, and instrumental examination methods. Results. Congenital adrenal cortical dysfunction, the virilizing – salt-wasting form, belongs to the group of genetically determined electrolyte balance disorders. These arise from impaired sodium ion reabsorption in the renal tubules due to the low sensitivity of tubular epithelial receptors to aldosterone. The clinical presentation is variable, and the disease may proceed with a risk of fatal outcome due to severe salt loss and pronounced hyperkalemia. Key manifestations include polyuria, polydipsia, vomiting, failure to thrive (physical developmental delay), arterial hypotension, and episodes of dehydration. We present the specific features of the clinical course of congenital adrenal cortical dysfunction, the virilizing – salt-wasting form, as well as the dynamics of laboratory parameters before and during treatment in the newborn infant. Conclusion. In newborns presenting with persistent hyperkalemia amidst progressive hypotrophy (failure to thrive), congenital adrenal cortical dysfunction should be ruled out. The presented clinical case will allow clinicians to broaden their perspective on the issue of hyperkalemia and the characteristics of clinical manifestations of rare tubulopathies, facilitating timely diagnosis and the correct selection of management strategy.
| Mualliflar | Abdukadirova, Munira, Raxmankulova, Zuxra, Xojamova, Nargiza, To'xtaeva, Umida, Абдукадирова, Мунира, Рахманкулова, Зухра, Ходжамова, Наргиза, Тухтаева, Умида, Abdukadirova, Munira, Raxmankulova, Zuxra, Xojamova, Nargiza, To'xtaeva, Umida |
|---|---|
| Jurnal | Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi |
| Nashr sanasi | 2025-12-24 |
| Jild | 4 |
| Son | 6 |
| Betlar | 122-127 |
| Til | Rus |
| DOI | 10.56121/2181-3612-2025-6-122-127 |
DOI: 10.56121/2181-3612-2025-6-122-127 · Maqolaning asl sahifasi
congenital adrenal cortex hyperplasia, hypoxic damage to the central nervous system, premature baby, врождённая гиперплазия коры надпочечников, гипоксическое поражение центральной нервной системы, недоношенный ребёнок, adrenal korteksning tug'ma giper plaziyasi, markaziy asab tizimining gipoksik shikastlanishi, erta tug'ilgan chaqaloq
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