An unusual case of ambiguous genitalia

ABSTRACT Introduction: Mixed gonadal dysgenesis is most commonly associated with a mosaic 45X/46XY karyotype. The clinical phenotype may range from almost complete female or male external genitalia to ambiguous genitalia. The internal genitalia may be composed of dysgenetic testis on one side and a streak gonad on the contralateral side, however there can be varying configurations as well. The uterus and fallopian tubes are generally ipsilateral to the streak gonad and these retained Mullerian remnants are common. The presence of 45X may present with Turner like features including cardiac, renal anomalies and short stature. Case Report: We describe a case of ambiguous genitalia secondary to mixed gonadal dysgenesis where the sex assignment was made before the final diagnosis was reached. Conclusion: The diagnosis of mixed gonadal dysgenesis can be difficult for families. A multidisciplinary approach must be established for the patient and family while incorporating the psychosocial aspects also

Growth Hormone Deficiency

Short stature is a common reason for a child to visit the endocrinologist, and can be a variant of normal or secondary to an underlying pathologic cause. Pathologic causes include growth hormone deficiency (GHD), which can be congenital or acquired later. GHD can be isolated or can occur with other pituitary hormone deficiencies. The diagnosis of GHD requires thorough clinical, biochemical, and radiographic investigations. Genetic testing may also be helpful in some patients. Treatment with recombinant human growth hormone (rhGH) should be initiated as soon as the diagnosis is made and patients should be monitored closely to evaluate response to treatment and for potential adverse effects

Growth Hormone Deficiency

Short stature is a common reason for a child to visit the endocrinologist, and can be a variant of normal or secondary to an underlying pathologic cause. Pathologic causes include growth hormone deficiency (GHD), which can be congenital or acquired later. GHD can be isolated or can occur with other pituitary hormone deficiencies. The diagnosis of GHD requires thorough clinical, biochemical, and radiographic investigations. Genetic testing may also be helpful in some patients. Treatment with recombinant human growth hormone (rhGH) should be initiated as soon as the diagnosis is made and patients should be monitored closely to evaluate response to treatment and for potential adverse effects

Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis

Background: Subcutaneous fat necrosis (SCFN) is a rare, self-limiting condition that has been associated with several complications including hypercalcemia. Case presentation: We present the case of a 6-week-old male who presented to his pediatrician with a dime-sized erythematous nodule consistent with SCFN, who was also found to have supraventricular tachycardia (SVT). Laboratory findings revealed hypercalcemia and hyperkalemia. Extensive evaluation for the electrolyte disturbances revealed no other etiology. This case reinforces that SCFN should be considered in newborns with hypercalcemia of unknown etiology. Additionally, this case is the first to suggest a connection between SCFN and hyperkalemia. Electrolyte abnormalities can potentially contribute to arrhythmogenesis and may have triggered the arrhythmia in our patient. Conclusions: Our case highlights the importance of remaining vigilant in the workup of atypical rashes of the infant, which should include early assessment of serum electrolyte

Hypercalcemia, hyperkalemia and supraventricular tachycardia in a patient with subcutaneous fat necrosis

Background: Subcutaneous fat necrosis (SCFN) is a rare, self-limiting condition that has been associated with several complications including hypercalcemia. Case presentation: We present the case of a 6-week-old male who presented to his pediatrician with a dime-sized erythematous nodule consistent with SCFN, who was also found to have supraventricular tachycardia (SVT). Laboratory findings revealed hypercalcemia and hyperkalemia. Extensive evaluation for the electrolyte disturbances revealed no other etiology. This case reinforces that SCFN should be considered in newborns with hypercalcemia of unknown etiology. Additionally, this case is the first to suggest a connection between SCFN and hyperkalemia. Electrolyte abnormalities can potentially contribute to arrhythmogenesis and may have triggered the arrhythmia in our patient. Conclusions: Our case highlights the importance of remaining vigilant in the workup of atypical rashes of the infant, which should include early assessment of serum electrolyte

Diabetic ketoacidosis drives COVID‐19

BackgroundDiabetes is a risk factor for poor COVID-19 outcomes, but pediatric patients with type 1 diabetes are poorly represented in current studies.MethodsT1D Exchange coordinated a US type 1 diabetes COVID-19 registry. Forty-six diabetes centers submitted pediatric cases for patients with laboratory confirmed COVID-19. Associations between clinical factors and hospitalization were tested with Fisher's Exact Test. Logistic regression was used to calculate odds ratios for hospitalization.ResultsData from 266 patients with previously established type 1 diabetes aged <19 years with COVID-19 were reported. Diabetic ketoacidosis (DKA) was the most common adverse outcome (n = 44, 72% of hospitalized patients). There were four hospitalizations for severe hypoglycemia, three hospitalizations requiring respiratory support (one of whom was intubated and mechanically ventilated), one case of multisystem inflammatory syndrome in children, and 10 patients who were hospitalized for reasons unrelated to COVID-19 or diabetes. Hospitalized patients (n = 61) were more likely than nonhospitalized patients (n = 205) to have minority race/ethnicity (67% vs 39%, P < 0.001), public insurance (64% vs 41%, P < 0.001), higher A1c (11% [97 mmol/mol] vs 8.2% [66 mmol/mol], P < 0.001), and lower insulin pump and lower continuous glucose monitoring use (26% vs 54%, P < 0.001; 39% vs 75%, P < 0.001). Age and gender were not associated with risk of hospitalization. Higher A1c was significantly associated with hospitalization, with an odds ratio of 1.56 (1.34-1.84) after adjusting for age, gender, insurance, and race/ethnicity.ConclusionsHigher A1c remained the only predictor for hospitalization with COVID-19. Diabetic ketoacidosis is the primary concern among this group

Diabetic ketoacidosis drives COVID-19 related hospitalizations in children with type 1 diabetes.

BackgroundDiabetes is a risk factor for poor COVID-19 outcomes, but pediatric patients with type 1 diabetes are poorly represented in current studies.MethodsT1D Exchange coordinated a US type 1 diabetes COVID-19 registry. Forty-six diabetes centers submitted pediatric cases for patients with laboratory confirmed COVID-19. Associations between clinical factors and hospitalization were tested with Fisher's Exact Test. Logistic regression was used to calculate odds ratios for hospitalization.ResultsData from 266 patients with previously established type 1 diabetes aged <19 years with COVID-19 were reported. Diabetic ketoacidosis (DKA) was the most common adverse outcome (n = 44, 72% of hospitalized patients). There were four hospitalizations for severe hypoglycemia, three hospitalizations requiring respiratory support (one of whom was intubated and mechanically ventilated), one case of multisystem inflammatory syndrome in children, and 10 patients who were hospitalized for reasons unrelated to COVID-19 or diabetes. Hospitalized patients (n = 61) were more likely than nonhospitalized patients (n = 205) to have minority race/ethnicity (67% vs 39%, P < 0.001), public insurance (64% vs 41%, P < 0.001), higher A1c (11% [97 mmol/mol] vs 8.2% [66 mmol/mol], P < 0.001), and lower insulin pump and lower continuous glucose monitoring use (26% vs 54%, P < 0.001; 39% vs 75%, P < 0.001). Age and gender were not associated with risk of hospitalization. Higher A1c was significantly associated with hospitalization, with an odds ratio of 1.56 (1.34-1.84) after adjusting for age, gender, insurance, and race/ethnicity.ConclusionsHigher A1c remained the only predictor for hospitalization with COVID-19. Diabetic ketoacidosis is the primary concern among this group