Hormonal profile and androgen receptor study in prepubertal girls with hypertrichosis.

BACKGROUND: Prepubertal hypertrichosis is a reportedly benign condition characterized by an excessive growth of vellous hair in non-androgen dependent areas of the body compared to the amount usually present in normal subjects of the same age, race and sex. Although this condition is usually considered idiopathic and regarded as benign, it may be very disturbing cosmetically, causing significant patient and parental anxiety. METHOD: We performed a hormonal and androgen receptor study in 42 prepubertal girls with hypertrichosis and 29 control girls from 2 to 8 years of age. Both groups underwent a determination of basal LH, FSH, 17OH progesterone, androstenedione, testosterone, estradiol and SHBG, abdominal ultrasound to assess ovarian morphology, and the number of androgen receptor CAG/GGC repeats in DNA obtained from peripheral leukocytes. RESULTS: The hypertrichosis score was higher in the cases compared to controls. Serum gonadotropins and sex steroids were similar in both groups, but SHBG was significantly lower in the girls with hypertrichosis (71.1 ± 2.9 vs 81.9 ± 3.0 nmol/L, p < 0.02). The distribution of shorter, larger and total alleles was not statistically different between cases and controls. The combined analysis of CAG/GGC, however, showed a significantly higher prevalence of the most androgen-sensitive haplotypes (1-2: <22CAG + 17/17GGC- < 14CAG + 17/18GGC) in girls with hypertrichosis compared to controls. CONCLUSIONS: We conclude that girls with hypertrychosis exhibit AR(s) with enhanced sensitivity, which may facilitate the growth of their body hair.

[Gait, balance and independence rehabilitation program in elderly adults in a primary care unit]. / Programa para la rehabilitación funcional del adulto mayor. Mejorar la marcha, el equilibrio y la independencia.

OBJECTIVE: to evaluate the effect of a supervised rehabilitation program to improve gait, balance and independence in elderly patients attending a family medicine unit. METHODS: we conducted a quasi-experimental study over a period of four weeks in a group of 72 patients older than 65 years. INTERVENTION: a supervised program regarding the risk factors for falling, and balance, gait, coordination and oculovestibular system, the modalities to be done two or three times a week in the primary care unit or at home. An analysis of both tests was performed by "up and go," Tinetti scale and the Katz index. ANALYSIS: "intention to treat" and "by protocol." RESULTS: mean age was 72 ± 5 years, 67.8% were female and 81.9% of the patients completed the program. A significant clinical improvement with statistical level were evident for gait and balance (p = 0.001), independence showed only clinical improvement (p = 0.083). The efficacy for periodicity (two or three times/week) and performance place showed same clinical improvement and statistical level for gait and balance (p = 0.001 to 0.003) and independence showed only clinical improvement (p = 0.317 to 0.991). CONCLUSIONS: an integral rehabilitation program improved gait, balance and clinical independence significantly. The supervised program is applicable and can be reproduced at primary care unit or home for geriatric care and preventive actions.

Objetivo: evaluar un programa de rehabilitación de la marcha, equilibrio e independencia supervisado para adultos mayores en el primer nivel de atención. Métodos: estudio cuasiexperimental de 72 adultos mayores de 65 años de edad que recibieron orientación de factores de riesgo de caída, entrenamiento de marcha, equilibrio e independencia, dos o tres veces por semana en la unidad médica o en el domicilio por cuatro semanas. Se aplicó prueba levántate y anda, escala de Tinetti e índice de Katz. Análisis estadístico: intención a tratar y por protocolo. Resultados: 81.9 % completó el programa, la edad promedio fue de 72 ± 5 años; 67.8 % fue del sexo femenino. Se demostró mejoría estadísticamente significativa en la marcha y el equilibrio (p = 0.001) y sin significación estadística para independencia (p = 0.083). En los subgrupos que acudieron a la unidad médica adversus domicilio se observó mejoría con significación estadística solo en la marcha y el equilibrio (p = 0.001-0.003) y solo mejoría con relevancia clínica en la independencia (p = 0.317 a 1.000). Conclusiones: el programa es aplicable con resultados significativos en el primer nivel de atención.

Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls.

AIM: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA). SUBJECTS AND METHODS: Girls with breast in Tanner stage II and normal body mass index were followed for 3 years with a complete physical exam, bone age, pelvic ultrasound, and measurement of gonadal hormones using a leuprolide test. RESULTS: Forty-one girls (AGA 25/LBW 16) were followed up for 3 years. By 3 years, they had similar bone age, adjusted height, and body composition. In LBW girls, breast Tanner stage advanced faster during the first 2 years of follow-up, which was associated with higher serum androgens. Hirsutism score, ovarian volume, and number of follicles between AGA and LBW were not different nor was age of menarche. By the third year, basal and poststimulated levels of gonadotropins and androgens anti-Müllerian hormone and inhibin B were similar in both groups and did not show differences related to birth weight or degree of catch-up growth. CONCLUSION: LBW recruits showed a slightly faster breast development but no differences in androgen excess signs, internal genitalia, and gonadal hormonal patterns.

Assessment of diagnostic competence of plasmatic androgens on polycystic ovary syndrome based on receiver operator characteristic curves.

OBJECTIVE: This study was designed to assess the diagnostic potency of different androgens in hyperandrogenaemia criterion on polycystic ovary syndrome (PCOS) based on receiver operator characteristic (ROC) curves analysis. METHODS: We evaluated 55 PCOS patients and 27 healthy fertile women (control). Androgen evaluation included bio-available testosterone (BAT) by ammonium sulphate precipitation, Free Testosterone Index (FTI), androstenedione (A), total testosterone and dehydroepiandrosterone sulphate (DHEA-S). RESULTS: The androgen tests with the best diagnostic capacities were FTI and BAT. Although T and A had similar diagnostic potencies, A detected 5% of PCOS patients that could not be recognised by FTI, BAT (%), or T. The association of FTI, BAT (%) and A identified 96.36% of the hyperandrogenaemic patients. DHEA-S showed a wide dispersion of values and therefore poor discriminatory competence. DISCUSSION: This study suggests that routine androgen evaluation in PCOS should include FTI, BAT and A to avoid misdiagnosis. ROC curve analysis of these tests on patients with the complete spectrum of PCOS phenotypes is needed to confirm these results.

Differences in the endometrial transcript profile during the receptive period between women who were refractory to implantation and those who achieved pregnancy.

BACKGROUND: Gene expression profiling of normal receptive endometrium has been characterized, but intrinsic defects in endometrial gene expression associated with implantation failure have not been reported. METHODS: Women who had previously participated as recipients in oocyte donation cycles and repeatedly exhibited implantation failure (Group A, study group) or had at least one successful cycle (Group B, control group) and spontaneously fertile women (Group C, normal fertility group) were recruited. All were treated with exogenous estradiol and progesterone to induce an endometrial cycle, and an endometrial biopsy was taken on the seventh day of progesterone administration. RNA from each sample was analysed by cDNA microarrays to identify differentially expressed genes between groups. RESULTS: 63 transcripts were differentially expressed (>or=2-fold) between Groups A and B, of which 16 were subjected to real time RT-PCR. Eleven of these were significantly decreased in Group A with regard to Groups B and C. Among the dysregulated genes were MMP-7, CXCR4, PAEP and C4BPA. CONCLUSIONS: Repeated implantation failure in some oocyte recipients is associated with an intrinsic defect in the expression of multiple genes in their endometrium. Significantly decreased levels of several transcripts in endometria without manifest abnormalities is demonstrated for the first time and shown to be associated with implantation failure.

Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile / Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia: Report of a family

Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The proband's paternal uncles/aunts were married to the maternal aunts/uncles, respectively. The relatives had normal basal and stimulated 170HProgesterone levels, which did not clarify their carrier status. The CYP21A2 gene was sequenced. The proband and the paternal relatives harbored a Q318X, R483W mutation in one alíele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexametasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 170HProgesterone levels. This family had three mutations which abolish the 21-hydroxilase activity. Two mutations were detected in codon 483 of CYP21A2 gene, exon 10, which have not been reported previously in Latin-America. The molecular study performed in this family allowed us to give an appropriate genetic counseling and prenatal treatment.

[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]. / Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile.

Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The proband's paternal uncles/aunts were married to the maternal aunts/uncles, respectively. The relatives had normal basal and stimulated 17OHProgesterone levels, which did not clarify their carrier status. The CYP21A2 gene was sequenced. The proband and the paternal relatives harbored a Q318X, R483W mutation in one allele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexamethasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 17OHProgesterone levels. This family had three mutations which abolish the 21-hydroxylase activity. Two mutations were detected in codon 483 of CYP21A2 gene, exon 10, which have not been reported previously in Latin-America. The molecular study performed in this family allowed us to give an appropriate genetic counseling and prenatal treatment.

Diagnostic criteria for polycystic ovary syndrome and ovarian morphology in women with type 1 diabetes mellitus.

CONTEXT: The criteria for diagnosis of polycystic ovary syndrome (PCOS) have been modified and now include polycystic ovary morphology (PCOM). OBJECTIVE: The purpose of this study was to determine the frequency of PCOS and PCOM in women with type 1 diabetes mellitus (DM1). DESIGN: We evaluated the clinical, hormonal, and ultrasonographic characteristics in women with DM1 and compared them with a carefully matched group of normal women in a cross-sectional study. SETTING: The study was conducted at an academic research institute located within a general hospital. PATIENTS: All the women with DM1 attending our hospital who had experienced menarche at least 2.5 yr earlier were invited to participate and were compared with healthy women with regular menses and without a history of hyperandrogenism [controls (C)]. RESULTS: Hirsutism was present in 28.6 and 0.0% of DM1 and C, respectively (P < 0.001). Biochemical hyperandrogenism was present in 23.8 and 7.9% of DM1 and C, respectively. DM1 women had higher levels of testosterone and androstenedione and larger ovarian volume and follicle number by ovary than C. PCOM was present in 54.8% of DM1 and 13.2% of C (P < 0.001). Oligomenorrhea was present in 19% of women with DM1. The frequency of PCOS was 40.5 and 2.6% in DM1 and C, respectively (relative risk, 15.4; 95% confidence interval, 2.2-110.2; P < 0.0001). The proportion of women using intensive insulin treatment was higher in those with PCOM/PCOS (P < 0.05). Intensive treatment was a significant factor over having PCOM/PCOS (P < 0.05). CONCLUSIONS: A high frequency of hyperandrogenism, PCOM, and PCOS is observed in DM1, which appears to be associated with intensive insulin treatment.