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Background: Insulin resistance (IR), abnormal lipid profile, and other features of the metabolic syndrome have been described in CYP19 gene knockout mice and in aromatase-deficient adult men but not in prepubertal affected girls. Aims: To study insulin sensitivity, as well as the effects of estrogen, metformin and GnRHa treatment on glucose homeostasis, in an aromatase-deficient girl. Methods: Clinical, metabolic and hormonal follow-up data, from 8 to 12 years of age, is presented. Results: At 9 years of age, IR (HOMA 5.6) and glucose intolerance was detected, along with high serum testosterone (2.28 nmol/l), androstenedione (4.92 nmol/l) and FSH (13.4 mIU/ml) levels. Estrogen replacement was ineffective to suppress gonadotropin and androgen levels, as well as IR. Under metformin therapy, she developed type 2 diabetes and acanthosis nigricans. GnRHa administration for 1 year resulted in marked decreases in gonadotropin and serum androgens, but severe IR persisted. Conclusion: Postnatal estrogen replacement and a marked decrease of endogenous androgens failed to improve IR and glucose tolerance. We propose that, in females, the increment of androgens and/or lack of estrogens during fetal life might alter the mechanism of fetal programming of insulin sensitivity. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Mature cystic teratomas are the most common form of ovarian tumor in children and adolescents. These tumors are mostly benign and non-secreting. Virilization from an ovarian teratoma is exceptionally rare in pediatrics. Equally rare is the association of ovarian teratomas with auto-immune encephalitis. Methods: We describe the case of a 15-year-old girl with menstrual abnormalities and virilization, who had a past medical history of encephalitis of an unknown etiology 16 months prior to presentation. Results: Endocrine evaluation revealed an elevated serum testosterone and 17-hydroxy progesterone. A large left ovarian tumor was seen on a CT scan. Surgical excision revealed a mature cystic teratoma containing 6 liters of clear fluid with high androgen levels. Antibodies to the N-methyl-D-aspartate receptor of the hippocampus were detected in pre-operatively archived serum, but undetectable 6 months postoperatively. Immunohistochemistry studies on the tumor sections revealed that the antibodies in the patient’s serum reacted with areas of the tumor expressing the N-methyl-D-aspartate receptor. Postoperatively, the patient’s menstrual cycles became regular and her behavioral problems resolved. Her testosterone levels fell precipitously as well. Conclusion: Both virilizing mature cystic teratomas and teratoma-associated encephalitis are extremely rare in the pediatric population. We report on the first instance of these 2 rare entities occurring in the same patient. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Aims: To investigate whether long-term growth hormone (GH) treatment influenced blood pressure (BP), body proportions and BMI in young Turner syndrome (TS) women several years after GH discontinuation. Methods: A follow-up study of a randomized GH dose-response trial with 3 GH dosages (1.3, 2.0, and 2.7 mg/m2/day). 39 TS patients (20.0 ± 2.1 years) participated 4.8 (1.9) years after GH discontinuation. Mean GH duration was 8.7 (2.0) years. Measurements: BP, BMI and body proportions. Results: During GH treatment, DBP had decreased. At the long-term follow-up study, DBP had increased and was similar to pretreatment levels. DBP was negatively influenced by GH dose. SBP was not influenced by GH dose or duration. The BMI increased gradually during and after GH therapy. During GH therapy, shape values of sitting height had decreased to normal values, of foot had increased, and both remained constant after GH discontinuation. Conclusions: GH therapy in girls with TS has, besides height, additional beneficial effects on BP and body proportions, except foot length. Nearly 5 years after ending GH, the favorable effect of GH on BP was still noticeable. The BMI increased gradually over the years, not influenced by GH. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Aims: To investigate the metabolic consequences of long-term GH treatment in young women with Turner syndrome (TS), several years after GH discontinuation. Methods: Follow-up study of a randomized GH dose-response trial, with 3 GH dosages (1.3, 2.0, and 2.7 mg/m2/day). Thirty-nine TS patients (20.0 ± 2.1 years) participated 4.8 ± 1.9 years after GH discontinuation. Mean GH treatment duration was 8.7 ± 2.0 years. Fasting glucose, insulin, and serum lipids were measured. Results: Several years after GH discontinuation, insulin sensitivity remained lower, while β-cell function and fasting insulin levels remained higher than before treatment. Only BMI influenced β-cell function. Serum total cholesterol (TC), low-density lipoprotein and high-density lipoprotein (HDL) had further increased compared to 6 months after GH, resulting in higher TC, but also higher HDL levels compared to controls. The atherogenic index remained constant, but lower than controls. Conclusions: Besides height, GH therapy in girls with TS has additional beneficial effects on serum lipids. Nearly 5 years after discontinuation of GH therapy the favorable effect of GH was still noticeable. The GH-induced decrease in insulin sensitivity, however, remained unchanged, possibly due to having TS. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Management of puberty in the hypogonadal girl remains controversial. Estrogens have profound effects on growth and development. Oral estrogens, the most widely used form, undergo first-pass metabolism in the liver and alter many aspects of hepatic function. Transdermal estrogens are not subject to first-pass metabolism and are effective at mimicking spontaneous pubertal estrogen levels resulting in normal pubertal development. Age-appropriate induction of puberty should be initiated at 12 to 13 years of age; delaying puberty any longer may compromise quality of life during adolescence. Estrogens should be started at a low dose, approximately one-tenth to one-eighth of the adult replacement dose, and then increased gradually over a period of 2 to 4 years. Generally, progestins are added after 2 years of estrogen therapy. With these treatment regimens, breast development typically proceeds at a normal pace; however, the effects on uterine dimensions are less clear. Concomitant treatment with oral dehydroepiandrosterone (or dehydroepiandrosterone sulfate) advances pubic hair development in the adolescent girl with panhypopituitarism. Conclusions: In the hypogonadal girl, puberty should be induced with very low doses of transdermal estradiol at 12 to 13 years of age with gradual dose escalations over 2 to 4 years. Combination estrogen/androgen therapy in girls with hypogonadism should be explored in future research. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background/Aim: Gonadotropin levels measured by radioimmunoassays are high in girls with Turner syndrome (TS), but overlap significantly with those of normal girls. We hypothesized that gonadotropin levels would be above the normal range in TS when measured by ultrasensitive assays. Methods: Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were measured in 68 TS, and 133 control girls using ultrasensitive immunochemiluminometric assays (ICMA). Results: FSH levels in TS and normal girls were highest in early childhood (56.0 ± 39.7 and 2.3 ± 1.8 IU/l, respectively), declined at 6–10 years of age (11.3 ± 13.1 and 1.8 ± 0.9 IU/l, respectively), and then increased again (104.4 ± 68.9 and 4.9 ± 2.4 IU/l, respectively). FSH was in the normal range on 11 of 27 occasions in TS girls with ages 5–10 years, and on 3 of 44 occasions in >10 years. Although average LH values were higher than those of controls, they often overlapped the normal range. Conclusion: A significant number of TS girls have normal gonadotropins by ICMA. Spontaneous gonadotropin levels are not an adequate screening test for the diagnosis of TS but may prove useful for predicting the gonadal function and determining the appropriate timing of estrogen replacement therapy. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The first child of consanguineous parents presented with failure to thrive and feeding problems at age 6 weeks. Important laboratory findings were low plasma sodium and elevated potassium and renin. Salt wasting was caused by an enzymatic defect in the terminal aldosterone biosynthesis. The biochemical diagnosis of corticosterone methyloxidase (CMO) deficiency type II was established on the basis of plasma multisteroid analysis, showing a pathologic increase of 18-OH-corticosterone/aldosterone ratio. Sequence analysis of the CYP11B2 gene which encodes aldosterone synthase (P450c11Aldo), the enzyme required for the terminal steps in aldosterone biosynthesis, revealed a hitherto undescribed homozygous deletion of codon 173. CYP11B2 is polymorphic at this position, encoding arginine or lysine. Both parents were heterozygous carriers of the mutation. Amino acid residue 173 in P450c11Aldo is positioned in α-helix D. We presume that the secondary structure of the enzyme is changed by the single amino acid deletion. This report describes a novel mutation in the CYP11B2 gene, the third known mutation associated with CMO deficiency type II. [ABSTRACT FROM AUTHOR]

Central diabetes insipidus with thickening of the pituitary stalk has been demonstrated in adults with Langerhans cell histiocytosis (LCH), tuberculosis or sarcoidosis, and in children with LCH. We present a 10.5-year-old girl with central diabetes insipidus. Magnetic resonance imaging (MRI) revealed thickening of the central part of the pituitary stalk and multiple hyperintense lesions in the frontal white matter on T[sub 2] -weighted images. Laboratory findings were normal except for an elevated serum angiotensin-converting enzyme (ACE) level. The MRI findings together with the elevated serum ACE level highly suggest the diagnosis of sarcoidosis. We conclude that central diabetes insipidus can be the first clinical manifestation of sarcoidosis in children.Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Presents a case study of Laron syndrome in a 12-year-old Thai-Muslim girl with short stature and bone age of 4 years. Medical history of the patient; Features of the disease; Diagnosis of the disease.

Presents a study that examined the use of recombinant human growth hormone therapy to improve the height of Thai girls with Turner syndrome. Methodology; Effect of the hormone therapy on the height and rate of growth of the children; Conclusions.