Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
Congenital Abnormalities ; Cryptorchidism ; Hearing Loss, Sensorineural ; Humans ; Hypogonadism ; Kallmann Syndrome ; Kidney ; Kidney Diseases ; Korea ; Male ; Multiplex Polymerase Chain Reaction ; Olfaction Disorders ; Olfactory Bulb ; Population Characteristics ; Puberty ; Siblings ; Wills

We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.
Child ; Deamino Arginine Vasopressin ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Posterior ; Polydipsia ; Polyuria ; Turner Syndrome ; Water Deprivation

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
Congenital Abnormalities ; Cryptorchidism ; Hearing Loss, Sensorineural ; Humans ; Hypogonadism ; Kallmann Syndrome ; Kidney ; Kidney Diseases ; Korea ; Male ; Multiplex Polymerase Chain Reaction ; Olfaction Disorders ; Olfactory Bulb ; Population Characteristics ; Puberty ; Siblings ; Wills

Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate.
Adult ; Child ; Constipation ; Diet ; Diphosphonates ; Growth and Development ; Humans ; Hypercalcemia ; Infant ; Kidney Calculi ; Weight Gain

We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.
Child ; Deamino Arginine Vasopressin ; Diabetes Insipidus, Neurogenic ; Diabetes Mellitus ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Posterior ; Polydipsia ; Polyuria ; Turner Syndrome ; Water Deprivation

Ketosis-prone diabetes includes heterogeneous disease groups characterized by provoked or unprovoked ketoacidosis (ketosis), with a typical phenotype of autoimmune type 1 diabetes. As the incidence of obesity and type 2 diabetes is universally increasing, the rate of type 2 diabetes in diabetic ketoacidosis in children and adolescents is exptected to increase rapidly. The clinical presentation of atypical ketoacidosis with type 2 diabetes has been reported mostly in adults. We recently experienced a case of a 10-year-old obese girl with new-onset type 2 diabetes who initially presented with severe diabetic ketoacidosis, and introduce it with literature reviews.
Adolescent ; Adult ; Child ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Humans ; Incidence ; Ketosis ; Obesity ; Phenotype

Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate.
Adult ; Child ; Constipation ; Diet ; Diphosphonates ; Growth and Development ; Humans ; Hypercalcemia ; Infant ; Kidney Calculi ; Weight Gain

PURPOSE: Central precocious puberty (CPP) is defined as any sign of secondary sexual maturation appears at an age lower than two standard deviations of the mean for the average age. This process is driven by activation of hypothalamic gonadotropin releasing hormone (GnRH) secretion. Many genes expressed in the hypothalamus have been identified to play an important role in the onset and the progression of puberty. In this study, the GNRH1, its receptor (GNRHR), and kisspeptin receptor (GPR54) genes were scanned to investigate sequence alterations and their distribution in Korean girls with CPP. METHODS: One hundred and one Korean girls with CPP were recruited as the case group and 51 normal Korean women as the control group. The DNAs were extracted and amplified by polymerase chain reaction (PCR), and the products were sequenced directly. Statistical analyses were performed, and P values of < 0.05 were considered significant. RESULTS: Four polymorphisms were identified; however, no pathological mutation was found. Two of the polymorphisms were previously reported, c.47G > C in GNRH1, and c.1091T > A in GPR54. However, the other two (c.196C > T in GNRH1 and c.546T > C in GNRHR) were novel. There was no polymorphism that was significantly associated with early onset or rapid progression of puberty. CONCLUSION: Although the size of our study population was relatively small, simple genetic variations in GNRH1, GNRHR, and GPR54 genes are not likely to be a substantial factor directly associated with the onset and progression of puberty.
DNA ; Female ; Genetic Variation ; Gonadotropin-Releasing Hormone ; Humans ; Hypothalamus ; Piperazines ; Polymerase Chain Reaction ; Puberty ; Puberty, Precocious ; Sexual Maturation

Ketosis-prone diabetes includes heterogeneous disease groups characterized by provoked or unprovoked ketoacidosis (ketosis), with a typical phenotype of autoimmune type 1 diabetes. As the incidence of obesity and type 2 diabetes is universally increasing, the rate of type 2 diabetes in diabetic ketoacidosis in children and adolescents is exptected to increase rapidly. The clinical presentation of atypical ketoacidosis with type 2 diabetes has been reported mostly in adults. We recently experienced a case of a 10-year-old obese girl with new-onset type 2 diabetes who initially presented with severe diabetic ketoacidosis, and introduce it with literature reviews.
Adolescent ; Adult ; Child ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Humans ; Incidence ; Ketosis ; Obesity ; Phenotype

PURPOSE: Central precocious puberty (CPP) is defined as any sign of secondary sexual maturation appears at an age lower than two standard deviations of the mean for the average age. This process is driven by activation of hypothalamic gonadotropin releasing hormone (GnRH) secretion. Many genes expressed in the hypothalamus have been identified to play an important role in the onset and the progression of puberty. In this study, the GNRH1, its receptor (GNRHR), and kisspeptin receptor (GPR54) genes were scanned to investigate sequence alterations and their distribution in Korean girls with CPP. METHODS: One hundred and one Korean girls with CPP were recruited as the case group and 51 normal Korean women as the control group. The DNAs were extracted and amplified by polymerase chain reaction (PCR), and the products were sequenced directly. Statistical analyses were performed, and P values of < 0.05 were considered significant. RESULTS: Four polymorphisms were identified; however, no pathological mutation was found. Two of the polymorphisms were previously reported, c.47G > C in GNRH1, and c.1091T > A in GPR54. However, the other two (c.196C > T in GNRH1 and c.546T > C in GNRHR) were novel. There was no polymorphism that was significantly associated with early onset or rapid progression of puberty. CONCLUSION: Although the size of our study population was relatively small, simple genetic variations in GNRH1, GNRHR, and GPR54 genes are not likely to be a substantial factor directly associated with the onset and progression of puberty.
DNA ; Female ; Genetic Variation ; Gonadotropin-Releasing Hormone ; Humans ; Hypothalamus ; Piperazines ; Polymerase Chain Reaction ; Puberty ; Puberty, Precocious ; Sexual Maturation