PurposeBrain magnetic resonance imaging (MRI) findings and factors predictive of pathological brain lesions in boys with precocious puberty (PP) or early puberty (EP) were investigated.MethodsSixty-one boys with PP or EP who had brain MRI performed were included. PP was classified into the central or peripheral type. Brain MRI findings were categorized into group I (pathological brain lesion known to cause puberty; newly diagnosed [group Ia] or previously diagnosed [group Ib]); group II (brain lesion possibly related to puberty); and group III (incidental or normal findings). Medical history, height, weight, hormone test results, and bone age were reviewed.ResultsBrain lesions in groups I and II were detected in 17 of 23 boys (74%) with central PP, 9 of 30 boys (30%) with EP, and 7 of 8 boys (88%) with peripheral PP. All brain lesions in boys with peripheral PP were germ cell tumors (GCT), and 3 lesions developed later during follow-up. Group I showed earlier pubertal onset (P<0.01) and greater bone age advancement (P<0.05) than group III. Group III had lower birth weight and fewer neurological symptoms than "Ia and II" (all P<0.05).ConclusionEarlier onset of puberty, greater bone age advancement, and/or neurological symptoms suggested a greater chance of pathological brain lesions in boys with central PP or EP. All boys with peripheral PP, even those with normal initial MRI findings, should be evaluated for the emergence of GCT during follow-up.

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

Kim et al.: A lack of association between vitamin d-binding protein and 25-hydroxyvitamin d concentrations in pediatric type 1 diabetes without microalbuminuria.