Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic.

BACKGROUND: The aim of the study was to determine the compliance with the clinical and ultrasonographic staging of pubertal breast development in obese children. METHODS: Fifty-two obese children with Tanner stage 2 and stage 3 breast development accompanied by at least one pubertal clinical finding were included in the study. The staging of breast development was also performed according to the ultrasonographic morphostructural appearance. The subjects were then divided into subgroups according to their clinical and ultrasonographic breast stages. The stages given by both methods were compared for consistency with the hormonal values and other radiological (uterus long diameter, ovary sizes) findings. RESULTS: The correlation between the clinical and ultrasonographic staging of pubertal breast development was determined to be weak (r=0.19). Estradiol levels, uterus long diameter and ovary sizes were significantly increased when the ultrasonographic stage increased among the subjects with clinically similar breast development stage. However, no statistical difference was determined in these parameters among the subjects with ultrasonographically similar but clinically different breast development. CONCLUSIONS: It was shown that the ultrasonographic staging of breast development could provide more accurate and objective data due to the possible mistakes caused in the breast development staging of obese children by their adipose tissue.

Assessment of bone turnover markers and bone mineral density in normal short boys.

AIM: To investigate whether there is a change in bone turnover-related biochemical markers and bone mineral density of children with constitutional delay of growth and puberty (CDGP) in the prepubertal period. METHODS: We measured serum calcium, phosphorus, alkaline phosphatase, parathormone, 25-OH vitamin D, osteocalcin, osteoprotogerin and urinary deoxypyridinoline levels (D-pyd), and bone mineral density (BMD) in 31 prepubertal boys with CDGP. These children were compared with 22 prepubertal boys with familial short stature (FSS) and 27 normal prepubertal boys. RESULTS: Urinary D-pyd was significantly high in CDGP group as compared to control group (p=0.010). Volumetric BMD did not significantly differ between CDGP, FSS, and control groups (p=0.450). Volumetric BMD and urinary D-pyd levels of FSS and control groups were similar. Mean or median levels of calcium, phosphorus, alkaline phosphatase, parathormone, and osteoprotegerin did not significantly differ between CDGP, FSS, and control groups. CONCLUSIONS: Our data suggest that prepubertal boys with CDPG have normal bone turnover. However, their significantly higher urinary D-pyd levels relative to those of FSS and control groups might be an indicator of later development of osteoporosis. Therefore, long-term follow-up studies monitoring bone mineral status of prepubertal boys with CDPG from prepuberty to adulthood are needed to better understand bone metabolism of these patients.

Gonadal dysfunction and pelvic sonographic findings in females with thalassaemia major.

OBJECTIVE: To investigate pubertal and menstrual problems and evaluate pelvic sonographic findings in patients with beta-thalassaemia major. MATERIAL AND METHODS: Twenty-five female patients followed for thalassaemia major constituted the study population. Sexual maturation and hormonal status were assessed. Pubertal and menstrual problems were investigated. RESULTS: There was one patient with delayed puberty and five patients with arrested puberty. Mean ferritin level in this group of patients was slightly but not significantly higher than patients with normal pubertal maturation (2620 +/- 994 ng/ml vs. 2409 +/- 1348 ng/ml, p > 0.05). There were 10 patients with primary amenorrhoea, three with secondary amenorrhoea, five with oligomenorrhoea and irregular menstruation and one with regular menstruation. Compared to menstruating patients, the mean uterine size was smaller (4.1 +/- 3.5 cm(3) vs. 52.8 +/- 14.5 cm(3)) in all patients with delayed and arrested puberty (p < 0.05). Ten patients were taking hormone replacement therapy (HRT). The mean uterine size in these patients was larger than that in patients with amenorrhoea who were not taking HRT, but smaller than that in menstruating patients (9.1 +/- 15.9 cm(3), 2.7 +/- 1.3 cm(3) and 52.8 +/- 14.5 cm(3), respectively) (p < 0.05). CONCLUSION: Thalassaemia major has important side effects on the hypothaloma-pituitary-gonadal axis resulting in pubertal and menstrual abnormalities. HRT should be given to provide normal sexual maturation in these patients.

Sonography of the pelvis in patients with primary amenorrhea.

Duplex/color Doppler sonography (US) is the imaging modality of choice for the evaluation of patients with primary amenorrhea. Careful correlation with clinical history, physical examination and laboratory findings significantly narrows the diagnostic possibilities thus allowing for a more precise diagnosis. This article discusses the wide gamut of etiologies of primary amenorrhea, the US appearance of pathologic processes that result in primary amenorrhea, and helps the reader understand when additional higher tech imaging is indicated.

Boys with a simple delayed puberty reach their target height.

INTRODUCTION: Final height in boys with delayed puberty is thought to be below target height. This conclusion, however, is based on studies that included patients with genetic short stature. We therefore studied final height in a group of 33 untreated boys with delayed puberty with a target height >-1.5 SDS. METHODS: Standing height, sitting height, weight and arm span width were measured in each patient. Final height was predicted by the method of Greulich and Pyle using the tables of Bailey and Pinneau for retarded boys at their bone age (PAH1) and the tables of Bailey and Pinneau for average boys plus six months (PAH2). RESULTS: Mean final height (175.8 +/- 6.5 cm) was appropriate for the mean target height (174.7 +/- 4.5 cm). The prediction method of Bailey and Pinneau overestimated the final height by 1.4 cm and the modified prediction method slightly underestimated the final height (-0.15 cm). CONCLUSION: Boys with untreated delayed puberty reach a final height appropriate for their target height. Final height was best predicted by the method of Bailey and Pinneau using the tables for average boys at their bone age plus six months.

Hypogonadotropic hypogonadism associated with cleidocranial dysostosis.

BACKGROUND: Cleidocranial dysostosis (CCD) is a rare autosomal dominant disease with high penetrance and extremely variable expression. Some of the clinical manifestations include large, broad and short cranium with frontal and parietal bossing and a supraglabellar depression, facial part of the cranium relatively small with hypertelorism, absent or poorly defined superior and inferior clavicular depressions. PATIENT REPORT: A 17 year-old girl with CCD was referred to the pediatric endocrinology and metabolism clinic because she failed to reach any signs of puberty.

Altered bone mass in children at diagnosis of Crohn disease: a pilot study.

OBJECTIVES: Recent studies have indicated that bone mineral density is reduced in children with inflammatory bowel disease. The exact cause of this reduction is unclear, but it is often attributed to corticosteroid use. This study examined the prevalence of reduced bone mass in otherwise healthy children newly diagnosed with Crohn disease without previous corticosteroid exposure. METHODS: Eighteen steroid-naive children newly diagnosed with Crohn disease underwent dual energy x-ray absorptiometry. Disease activity, growth and pubertal development, nutritional assessment and bone mass measurements were recorded. z scores were adjusted for bone age. RESULTS: Five of the 18 patients (28%) had a total bone mineral density z score less than -1 (one had a z score less than -2). Ten (56%) subjects had lumbar spine bone mineral density z scores less than -1 (two had z score less than -2). The subjects had significantly reduced mean lumbar spine bone mineral density z scores (P = 0.002). Delayed pubertal development correlated with whole body bone mineral density z scores (r = 0.64; P = 0.004). Most subjects were not meeting United States recommended dietary allowances for daily intake of calcium, vitamin D and total calories. The majority of subjects were not participating in weight-bearing physical activity. CONCLUSION: Decreased bone mass is common in steroid naive children newly diagnosed with Crohn disease. Crohn disease appears to contribute to impaired bone mass independent of corticosteroid therapy.

Longitudinal monitoring of bone accretion measured by quantitative multi-site ultrasound (QUS) of bones in patients with delayed puberty (a pilot study).

OBJECTIVE: to compare the effect of anabolic agents on bone accretion in boys with constitutional delay of puberty (CGDP). RATIONALE: it has been suggested that an appropriate timing of puberty is necessary for normal bone mineral density (BMD) acquisition. Proper bone development during childhood is the key factor in achieving higher peak bone mass during middle age, which may not be achievable in CGDP children, and thereby osteoporosis may appear at an earlier age then expected. PATIENTS AND METHODS: 45 boys with CGDP aged 14-16 years were monitored longitudinally, every 3 months over 12 months with Sunlight Omnisense, a quantitative ultrasound device (Tel Aviv, Israel). The apparatus is a multi-site bone sonometer that obtains axial Speed of Sound (SOS). Based on a reference database obtained on n=1,085 (490 boys) 0-18 years, a normative curve was determined. Fifteen (14-16 years old) of the CGDP patients were treated with I.M. testovirone depot 100 mg monthly for 6 months, 15 (14-16 years old) were treated with oxandrolone 5 mg/m(2) daily for 6 months, and 15 (14-16 years old) were in an observation group. RESULTS: whereas the quantitative ultrasound (QUS) Z-score had shown some increase over time in CGDP-treated patients, an increase was found in tibia Z-score from -0.5(-0.64, -0.36) to -0.4(-0.54, -0.26) and from -0.52(-0.67, -0.38) to -0.31(-0.44, -0.11) in the testosterone and oxandrolone-treated groups, respectively, [median (25%, 75%)]. An increase in radius Z-score from -0.52(-0.65, -0.25) to -0.4(-0.54, -0.15) and from -0.51(-0.61, -0.21) to -0.37(-0.47, -0.07) in the testosterone- and oxandrolone-treated groups respectively [median (25%,75%)]. Z-score SOS decreased in the observation group -0.5(-0.66, -0.3) to -0.69(-0.85, -0.54) and -0.5(-0.59, -0.41) to -0.81(-0.95, -0.55) in tibia (P = 0.032) and radius (P = 0.029), respectively. Despite the fact that QUS remained in the normative range in all patients, a clear deterioration was demonstrated in untreated CGDP patients. CONCLUSION: longitudinal follow-up of patients with CGDP may detect an early pattern of deterioration of bone mass.

Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism.

OBJECTIVE: To evaluate whether long-term L-thyroxine therapy in young adults with congenital hypothyroidism may affect bone mineral density (BMD). DESIGN: Thirty-seven subjects with congenital hypothyroidism, detected by neonatal screening and longitudinally followed from the time of diagnosis and treatment (26+/-4 days) up to the age of 17.8+/-1.0 years, were studied. METHODS: Spinal (L2-L4) BMD, measured by dual-energy X-ray densitometry, and bone quality, measured as amplitude-dependent speed of sound (Ad-SoS) by quantitative ultrasound, were evaluated. RESULTS: Z-score mean values (+/-s.d.) of BMD (-0.3+/-0.7) and Ad-SoS (-0.7+/-1. 1) were slightly below the average but within the normal range. Ad-SoS resulted in a z-score below -1 in 38% of patients as compared with BMD which resulted in a z-score below -1 in only 13.5% of subject. No significant differences were observed between males (BMD, -0.3+/-0.7; Ad-SoS, -0.9+/-1.0) and females (BMD, -0.3+/-0.7; Ad-SoS, -0.5+/-1.2) or when dividing patients on the basis of aetiological defects; ectopic gland (BMD, -0.3+/-0.6; Ad-SoS, -0.8+/-0.9), athyreosis (BMD, -0.3+/-0.9; Ad-SoS, -0.8+/-1.0) and eutopic gland (BMD, -0.3+/-0.8; Ad-SoS, -0.4+/-1.3). No significant relationships were observed between BMD or Ad-SoS z-score and hormonal status or L-thyroxine dosages at the time of the study or during the pubertal period. CONCLUSIONS: The careful monitoring of serum thyroid-stimulating hormone and adjustment of l-thyroxine dosage avoided the significant deleterious effects of prolonged L-thyroxine replacement therapy on bone tissue in adolescents and young adults with congenital hypothyroidism treated from the neonatal period.

The role of Doppler evaluation of the uterine artery in girls around puberty.

BACKGROUND: Presently, the only sonographic parameters used to follow puberty in girls are size and morphology of the uterus and ovaries. Doppler of the uterine artery appears a useful complementary parameter to follow puberty. OBJECTIVE: To determine the potential contribution of Doppler evaluation of the uterine artery in girls around puberty. MATERIALS AND METHODS: We investigated 61 healthy female volunteers aged 2-15 years (mean 10.3 years). In each girl we performed a standard pelvic transabdominal US examination, including measurement of the uterus and ovaries. Uterine arteries were visualized by colour Doppler and a pulsed signal was obtained in each patient. The blood flow velocity waveform was analysed and the pulsatility index (PI) was calculated. Growth of the uterus and ovaries was plotted against age, and the PI was compared to each of the other studied variables (age, size of uterus, volume of ovaries). RESULTS: We observed a strong negative correlation between the PI of the uterine artery and the usually studied variables. We also observed a progressive modification of the Doppler signal pattern of the uterine artery during the establishment of puberty: the narrow systolic flow waves found in prepubertal girls were progressively replaced by a systolic-diastolic flow wave. CONCLUSIONS: The demonstration of diastolic flow can confirm the onset of puberty.

Delayed dental age in boys with constitutionally delayed puberty.

It was the purpose of this study to evaluate dental age in boys with delayed puberty and to compare them with a group of normal, healthy boys. The study group consisted of eight boys with constitutional delay of growth and puberty (CDGP), older than 14 years, and with a testis volume smaller than 4 ml. The control group comprised 38 normal, healthy boys, aged between 12.4 and 14.3 years. Dental age was assessed using the Demirjian method and, on the basis of this evaluation, a dental delay score (i.e. dental age minus chronological age) was calculated in the CDGP and the control group. It was found that Demirjian's dental age assessment is a valid method for scoring dental age in Belgian boys between 12 and 14 years of age, and that CDGP boys showed a significant delay in dental development compared with normal boys (P = 0.0085). This study revealed a significant retardation in dental maturation of boys with CDGP.

Quantitative bone SPECT in young males with delayed puberty and hypogonadism: implications for treatment of low bone mineral density.

UNLABELLED: Constitutional delayed puberty (DP) and idiopathic hypogonadotropic hypogonadism (IHH) lead to osteoporosis in adult men. We were interested in whether response to treatment of these conditions by testosterone could be predicted by in vivo quantitative bone SPECT (QBS) measurement of bone turnover and whether testosterone administration affects bone mineral density (BMD) in these subjects. METHODS: In vivo QBS and BMD measurements were performed in the lumbar spine (LS) and femoral neck (FN) of 29 young men with DP and 16 young men with IHH. In vivo QBS and BMD values in these patients were compared to the values obtained from 27 age-matched normal controls. The effect of testosterone treatment was determined by measuring changes in QBS and BMD, before and after treatment of 22 patients with DP and of all 16 patients with IHH. Seven patients with DP were not treated. RESULTS: In vivo QBS values in patients with DP were significantly higher than those in controls (8.44% +/- 2.55%ID/ml compared to 5.63% +/- 1.12%ID/ml x 10(-3), p < 0.001, for the LS; and 7.86% +/- 3.01%ID/ml compared to 4.29% +/- 1.25%ID/ml, p < 0.001, for the FN). One year after testosterone treatment, QBS values in DP were significantly reduced. Pretreatment BMD values in patients with DP were significantly lower than those in normal subjects (0.77 +/- 0.11 g/cm2 compared to 1.03 +/- 0.14 g/cm2, p < 0.0001, for the LS; and 0.89 +/- 0.11 g/cm2 compared to 1.08 +/- 0.18 g/cm2, p < 0.006, for the FN). One year after treatment, BMD values increased significantly (0.91 +/- 0.14 g/cm2, p < 0.0001, for the LS; and 0.97 +/- 0.11 g/cm2, p < 0.0001, for the FN). The seven untreated young men with DP still had significantly lower-than-normal BMD values (0.82 +/- 0.08 g/cm2, p < 0.008, for the LS; and 0.89 +/- 0.05 g/cm2, p < 0.04, for the FN). In patients with IHH, QBS values were not significantly different from those found in normal controls. The values for BMD were significantly lower for both the LS (p < 0.0001) and the FN (p < 0.001). After treatment, BMD values in patients with IHH were still significantly lower than those of normals (p < 0.009 for the LS; and p < 0.006 for the FN). CONCLUSION: Young men with maturation abnormalities show low bone density. Patients with DP and high bone turnover, as revealed by high QBS values, respond to testosterone treatment. Patients with IHH have normal bone turnover and do not respond to testosterone.

[The role of echography in the complex dynamic examination of patients with retardation of sexual development]. / Rol' ékhografii v kompleksnom dinamicheskom nabliudenii za bol'nymi s zaderzhkoi polovogo sozrevaniia.

Seventy-nine patients with sexual development retardation were examined, 24 of these suffered from ovarian genesis condition and 55 from central genesis condition. The findings evidence that detection of the uterus and gonads presenting as cords is one of the diagnostic criteria indicating gonadal dysgenesis. Echographic examinations carried out over the course of therapy yield a more accurate picture of ovarian function. No increase in uterine size on the echogram after discontinuation of hormonal therapy and the appearance of follicles in the ovaries after treatment point to normally functioning ovaries and helps specify the origin of sexual development retardation. In sexual development retardation of a central origin ultrasonic scanning helps assess the therapy efficacy and predict its outcome.