Recent discussions at the 16th Brazilian Congress of pediatrics in Endocrinology and Metabolism (COBRAPEM 2025) highlighted critical advancements in newborn endocrine care, with a focus on early diagnosis to improve infant outcomes. Pediatric endocrinologists emphasized recognizing subtle signs of complex hormonal and metabolic disorders, which can present uniquely in the neonatal period. Presentations covered a range of conditions-from disorders of sexual growth and growth hormone deficiencies to Prader-Willi syndrome and hyperinsulinemic hypoglycemia-underscoring the need for vigilant assessment and timely intervention. Experts stressed that a high index of suspicion and thorough evaluation are essential for optimizing the health of newborns with these potentially serious conditions.
A recent medical session at the 16th Brazilian Congress of Pediatrics in Endocrinology and Metabolism (COBRAPEM 2025) focused on identifying and managing endocrine conditions in newborns. Early detection of these conditions is crucial for ensuring optimal health outcomes for infants.
Recognizing Differences in Sexual Development
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One key discussion centered on atypical genitalia and disorders of sexual development (DDS). Dr. José Antônio Diniz highlighted the importance of considering DDS even before birth, noting that discrepancies between fetal sex determination and ultrasound findings in the second and third trimesters, as well as the detection of atypical genitalia on ultrasound, should raise suspicion.
In the newborn period, Dr. Diniz emphasized that variations such as atypical genitalia, typically female genitalia with inguinal gonads or bilateral inguinal hernias in girls, and typically male genitalia without palpable gonads, should all be considered warning signs. A thorough medical history, careful physical examination, and open communication with parents are essential when a diagnosis is uncertain. Diagnostic evaluation may include karyotyping, biochemical tests, and imaging studies.
Growth Hormone Deficiency and Pan-Hypopituitarism
Dr. Ricardo Fernandes then presented indicators of growth hormone (GH) deficiency and pan-hypopituitarism. These include prolonged jaundice, hypotonia (low muscle tone), circulatory collapse, micropenis, undescended testicles (cryptorchidism), excessive urination (polyuria), midline defects, and persistent low blood sugar (hypoglycemia). Regarding hypoglycemia, concerning characteristics include onset within the first 72 hours of life, recurrence, symptoms like seizures or lethargy, and the need for high glucose infusion rates. In such cases, deficiencies in both GH and ACTH should be considered.
Early Detection of Prader-Willi Syndrome
Dr. Ruth Rocha detailed signs and symptoms in newborns that might indicate Prader-Willi Syndrome, such as severe hypotonia, difficulty sucking, and poor weight gain. Early diagnosis is critical to reduce illness and mortality, as lack of specific treatment can lead to serious, often fatal, complications from obesity and related health issues.
Hyperinsulinemic Hypoglycemia
Finally, Dr. Rafael Mantovani addressed hyperinsulinemic hypoglycemia, recommending investigation in newborns with persistent low blood sugar after one week of life, or those requiring glucose infusion rates exceeding 8–10 mg/kg/min.
These discussions underscored the importance of a careful assessment of newborns to prevent potentially serious conditions from being overlooked. Accurate and timely diagnosis can significantly improve outcomes for infants with these complex endocrine disorders.
Read more highlights from COBRAPEM 2025!
