Correlate each distinct clinical and laboratory vignette with its most accurate diagnosis.
- A 2-week-old female newborn with ambiguous genitalia, hyponatremia, hyperkalemia, and markedly elevated 17-hydroxyprogesterone.21-hydroxylase deficiency
- A 6-month-old infant with failure to thrive, severe polyuria, hypernatremia, and dilute urine that remains dilute following desmopressin administration.Nephrogenic diabetes insipidus
- A 14-year-old male with delayed puberty, lack of sense of smell, prepubertal testicular volume, and inappropriately low luteinizing and follicle-stimulating hormones.Kallmann syndrome
- A 7-year-old female with rapid linear growth, isolated breast development, advanced bone age, and luteinizing hormone levels that rise significantly after gonadotropin-releasing hormone (GnRH) stimulation.Central precocious puberty
Cevap
The presentations match as follows: The virilized neonate with salt wasting has 21-hydroxylase deficiency; the infant with vasopressin-resistant polyuria has nephrogenic diabetes insipidus; the anosmic teen with delayed puberty has Kallmann syndrome; and the child with early maturation and robust GnRH response has central precocious puberty.
Each vignette provides pathognomonic clinical features and laboratory findings that map specifically to a single pediatric endocrine disorder, differentiating it from similar conditions based on distinct physiological principles.
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Anahtar Kavram
Clinical presentation and diagnostic testing in pediatric endocrine disorders
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