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Objective To evaluate the characteristics of obese girls with gonadotropin releasing hormone-dependent precocious puberty with and without polycystic-like ovaries. Methods Forty-seven overweight (>75th centile of the Italian reference data) girls with a diagnosis of isosexual precocious puberty underwent auxological analysis, hormonal assay and utero-ovarian sonographic and Doppler evaluation. On the basis of sonography the patients were subdivided into two groups, girls presenting normal ovaries (Group I; n = 31) and those with polycystic-like ovaries (Group II; n = 16). Results The mean body weight was significantly higher (P = 0.003) in Group II than it was in Group I. In addition, the patients with polycystic-like ovaries fell within our definition of superobese (≥97th centile of the Italian reference data) in 44% of cases. The uterine and ovarian volumes were significantly greater in Group II compared with Group I patients. The Doppler evaluation showed intraparenchymal ovarian vascularization and low down-stream impedance to flow in all patients in Group II. Conclusions Girls with precocious puberty and polycystic ovaries, compared with those without polycystic ovaries, have a higher incidence of body weight exceeding the 85th centile of the Italian reference data (obesity). [ABSTRACT FROM AUTHOR]

Aim: To compare the results of ultrasound and computed peripheral tomography in evaluating bone mass in a population of normal children. Methods: Seven hundred and twenty-six healthy school children (260 males; age 8.3-20.9 y) underwent calcaneous ultrasound and peripheral computed tomography at the ultradistal radius. Broadband ultrasound attenuation (BUA) and areal and volumetric bone mineral density (aBMD and vBMD) were evaluated. The results were compared and correlated among them and with auxological parameters (height, BMI and pubertal stages) using the software package SPSS for Windows. Results: The three variables examined (BUA, aBMD and vBMD) all showed a progressive increase with age and a positive correlation with age, height and BMI. When the population was subdivided according to pubertal stages, all variables showed a progressive increase, the difference being significant when stages 1-2 were compared with stages 4-5. A significant correlation was present among BUA, aBMD and vBMD even if the Pearson correlation coefficient was not high. Conclusions: The similar pattern of BUA, aBMD and vBMD with respect to age, height and pubertal stages indicates that ultrasound could be a reliable method to screen bone mass abnormalities in children. The low correlation coefficient, however, suggests that the methods employed measure different bone parameters. Moreover, the different skeletal locations could also account for these results. [ABSTRACT FROM AUTHOR]

Objective To evaluate the role of ultrasound and color Doppler analyses in improving the differential diagnosis of pubertal precocities. Methods Sixty-nine girls with premature (< 8 years old) breast development and/or pubic hair growth underwent: auxological (height, weight, body mass index, skeletal maturation), hormonal (basal, gonadotropin releasing hormone (GnRH)-test, adrenocorticotropic hormone test), and sonographic (uterine and ovarian volume and endometrial echo) including color Doppler (uterine arteries) evaluations. Results The uterine size was greater in girls with a pubertal response to the GnRH test (Group II, n = 16; 7.48 ± 4.18 mL) than in those with a prepubertal response to the GnRH test (Group I, n = 17; 3.02 ± 1.36 mL; P = 0.006), an isolated pubarche (Group III; n = 20; 2.58 ± 1.32 mL; P < 0.001) or an isolated thelarche (Group IV, n = 16; 1.82 ± 1.07 mL; P < 0.001). Endometrial echo was observed in 87.5%, 29.4% and 5% of girls, respectively, in Groups II, I and III. The Doppler analysis of the uterine arteries showed the lowest impedance to be in patients with a pubertal response to the GnRH test (Group II). Conclusions Sonographic and color Doppler parameters may improve the diagnosis of GnRH-dependent precocious puberty and may be useful to determine which girls need treatment. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To evaluate the role of ultrasound and color Doppler analyses in the diagnosis of precocious puberty. Methods Gray-scale sonographic uterine and ovarian evaluation together with color Doppler analysis of the uterine artery were prospectively performed in 29 girls presenting with premature breast development and pubic hair growth. The values were compared with results obtained from the gonodotrophin releasing hormone stimulation test. Excluded from the study were patients with isolated thelarche or isolated pubarche and those patients with gonodotrophin releasing hormone-independent puberty and with polycystic ovaries. Results According to the Tanner scale, all the girls presented a breast stage of 2–3 and pubic hair stage 2–3. The uterine size was greater in those girls who presented a pubertal response to the gonodotrophin releasing hormone test (Group II; n = 20) (8.07 ± 4.47 mL) than in those who did not (Group I; n = 9) (3.07 ± 1.18 mL; P = 0.001). The ovarian volume and the number of small follicles was not significantly different between the groups. On Doppler analysis, more elevated impedances were observed in Group I (pulsatility index = 3.28 ± 0.37) than in Group II (pulsatility index = 2.29 ± 0.19; P = 0.001) girls. The presence of a low pulsatility index (< 2.5) at the level of the uterine arteries had a high diagnostic value for precocious puberty (sensitivity 86%, specificity 100%). Conclusions Uterine artery Doppler analysis may assist the diagnosis of gonodotrophin releasing hormone-dependent precocious puberty, may be useful for the selection of those girls needing treatment, and may simplify the follow-up of girls treated for precocities. [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "Surface rendering of external genitalia in fetus at 32 weeks of gestation affected by Partial Androgen Insensitivity Syndrome (PAIS)," by S. Latella and colleagues is presented.

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS., (© 2019 Wiley Periodicals, Inc.)

Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements that show enhancer activity. Recently, two SHOX conserved non-coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature. To further evaluate the role of these duplications in SHOX-related disorders, we describe seven patients (five with Leri-Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non-coding element regions, identified by multiplex ligation-dependent probe amplification. In addition, we show data from 32 patients with an apparently identical downstream duplication that includes a proposed putative regulatory element (identified by multiplex ligation-dependent probe amplification or array comparative genome hybridization), which results in a variable phenotype from normal to mild Leri-Weill dyschondrosteosis. These additional data provide further evidence that duplications of upstream and downstream long range cis-regulatory DNA elements can result in a SHOX-related phenotype., (© 2015 Wiley Periodicals, Inc.)

Fetal hydrops is a condition resulting from interstitial fluid accumulation in fetal compartments secondary to increased capillary permeability and characterized by high rates of perinatal mortality and morbidity. Clinical features include skin edema, hydrothorax, pericardial effusion, ascites with or without polyhydramnios, and placental edema. While it may occur as associated feature in multiple disorders, it has been documented to recur in Noonan syndrome, the most common disorder among RASopathies, but also in cardiofaciocutaneous and Costello syndromes. Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A>G missense change in SHOC2 which underlies Noonan-like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies., (© 2014 Wiley Periodicals, Inc.)

Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis.

Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers contacted PWS subjects and/or their family, filled in a specially developed form with the required data and forwarded this information by email. The study identified 425 subjects (209 males and 216 females, between the ages of 0.4-46.7). Two hundred thirty-eight patients had del15, 104 had UPD15, 4 demonstrated a translocation affecting chromosome 15 and 79 showed a positive methylation test. There were fewer subjects found over the age of 35, probably due to the low rate of identification of older PWS patients as well as the high mortality rate. There were a greater number of male children and adolescents with PWS whilst, amongst adults, there were more females. As expected, the majority of subjects with PWS were obese, especially in adult life. Nevertheless, it is noteworthy that 26% of patients aged between 6 and 17 were normal weight. A total of 212 subjects had received GH treatment, of which 141 were still receiving therapy, while the remaining 71 had stopped. In children and adolescents (233 cases), 89 subjects had never undergone GH therapy. Eighteen PWS patients had died in the past 20 years. Obesity-related cardiovascular and respiratory diseases were the cause of death, both during childhood and after 18 years of age. Three children died suddenly whilst undergoing GH therapy. Respiratory infection and cardiac illness were the causes of death in two cases. There was no definitive cause of death found in the third case. Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death., (Copyright 2008 Wiley-Liss, Inc.)