Estrogen receptor α gene analysis in girls with central precocious puberty.

Objective: Estrogen is the final key factor that triggers the onset of puberty. The raised sensitivity of estrogen receptor, which may be caused by an estrogen receptor α (ERα) gene mutation or polymorphism, has been implicated in the etiology of precocious puberty. The aim of this study is to identify ERα gene mutations or polymorphisms in girls with central precocious puberty (CPP).

Response to three years of growth hormone therapy in girls with Turner syndrome.

Purpose: Short stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years.

Impact of body mass index on luteinizing hormone secretion in gonadotropin-releasing hormone stimulation tests of boys experiencing precocious puberty.

Objective: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty. The aim of the study was to evaluate the impact of body mass index (BMI) on luteinizing hormone (LH) secretion to gonadotropin-releasing hormone (GnRH) stimulation test in boys with precocious puberty.

Methods: Boys with precocious puberty, who were normal weight, overweight, and obese underwent GnRH stimulation tests between 2003 and 2010.

Changes in bone mineral density and body composition in children with central precocious puberty and early puberty before and after one year of treatment with GnRH agonist.

Background/aims: Much concern has been raised and debated on the effects of obesity and bone mineral density (BMD) after treatment with GnRH agonist. The aim of this study was to assess BMD and body composition, especially percent body fat (%FM) based on dual-energy X-ray absorptiometry (DEXA), before and after 1 year of treatment with GnRH agonist in Korean girls.

Methods: We assessed BMD and body composition in 121 Korean girls with precocious puberty before and after 1 year of treatment with GnRH agonist.

Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation.

Virilizing adrenocortical carcinoma and Turner syndrome have opposite clinical manifestations in some aspects. Here, we report on the first case of virilizing adrenocortical carcinoma in a girl with Turner syndrome. A 2 10/12-year-old girl presented pubic hair of Tanner stage III with clitomegaly, deepening of her voice, and tall stature.

Attenuated renal excretion in response to thiazide diuretics in Gitelman's syndrome: a case report.

Gitelman's syndrome is a variant of Bartter's syndrome characterized by hypocalciuria and hypomagnesemia. The administration of thiazide diuretics may induce a subnormal increase of urinary Na+ and Cl- excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less Na+ and Cl- than normal is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Specific mutations of NaCl cotransporter, coupled with mutant NaCl cotransporter expression studies clearly demonstrated that many of the characteristics of individuals with Gitelman's syndrome are explained by lack of function of NaCl cotransporter.