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In this paper the tectonic behavior of Leukas and Meganisi islands (Ionian Sea) is examined through underwater research carried out in both islands. A possible Late Holocene correlation between coseismic subsidences is attempted and evidenced by submerged tidal notches in both islands. These subsidence events probably occurred after the uplift that affected the northernmost part of Leukas around 4 to 5ka BP. In conclusion, although the whole area was affected by a similar tectonic strain, certain coseismic events were only recorded in one of the two islands and in some cases they affected only part of the study area. [ABSTRACT FROM AUTHOR]

Fossil shorelines produced by recent co-seismic movements were identified through a submarine survey along the coasts of Ithaca and Fiscardo (Greece). In both areas a tidal notch-slightly submerged below present Mean Sea Level (MSL) was observed at various sites. This "modern" notch is known to have been submerged by the global sea-level rise during the 19th and 20th centuries. The depth after tide and air-pressure correction of the vertex of the "modern" notch (that owes its submergence to the current rapid sea level rise) was measured between -20 and -30±5cm at Fiscardo and between -36 and -45±6cm at Ithaca. This "modern" notch at the same depth on east and west sides of the Ionian Thrust suggests that both areas were not affected by the co-seismic vertical movements that occurred in 1953 (in the wider area). On the other hand, a greater depth in Ithaca could be an effect of co-seismic subsidence. Over the long term, the tectonic behavior of Ithaca differs from Fiscardo. At Ithaca no evidence of emergence was found and Holocene vertical movements have been only of subsidence: submerged fossil tidal notches were distinguished below MSL at about -40 (modern), -60, -75, -95, -106, -126, -150 and -220±6cm. On the East coast of Fiscardo peninsula impacts of ancient earthquakes have left some marks of emergence at about +18 and +44±5cm, and of submergence at about -25 (modern), -45, -60, -75, -82, -100 and -230cm, with even some evidence of past uplift and subsidence at the same sites. [ABSTRACT FROM AUTHOR]

An underwater geomorphological survey along the coasts of six Cycladic islands (Sifnos, Antiparos, Paros, Naxos, Iraklia and Keros) revealed widespread evidence of seven submerged tidal notches. At least seven former shorelines were identified at depths between 280 ± 20 and 30 ± 5 cm below modern sea level. The vertical succession of several submerged notches suggests the occurrence of rapid subsidence events, potentially of seismic origin. Comparison with other sea-level indicators from Naxos and Delos islands indicates that these relative sea-level changes took place after 3300 BP and provides a rough estimate of the time of development of several submerged shorelines. The submergence of the uppermost notch at −30 ± 5 cm is ascribed to effects of the recent global sea-level rise occurred during the last two centuries and, at least in part, to effects of recent earthquakes. Potential effects of the 1956 Amorgos earthquake with regard to coseismic and post-seismic vertical displacement have been recently investigated using a modellistic approach. According to the above, the lower shorelines should result from repetitive subsidence events and not from gradual subsidence. [ABSTRACT FROM AUTHOR]

The four fossil terraces of the Glorieuses Islands are described, and new dates are provided to resolve their stratigraphy, depositional setting, and tectonic behavior. Most outcrops consist of a single sedimentary unit that represents the remains of an extensive reef flat dominated by Isopora palifera corals. At Lys Island, this unit is locally overlain by dipping layered beds composed of Halimeda segments, tentatively interpreted as storm overwash. Reliable U/Th dates obtained from corals sampled from the fossil outcrops mostly fall between 127 and 123 kyr, suggesting that these reefs formed exclusively during the first MIS-5e sea-level highstand, when sea level reached +3 m. The mean elevation of these terraces being +4.5 m, an uplift of 0.012 ± 0.002 mm year is inferred. This relative tectonic stability contrasts with the subsidence reported from Mayotte Island, suggesting a different geologic setting for the nearby Comoros and Glorieuses archipelagoes. [ABSTRACT FROM AUTHOR]

The paper deals with wind measurements, recorded since the 1950s, at twelve meteorological stations along a transect near the westernmost European border, between 64° and 44° N. Extreme wind speed tends to decrease sharply near the northern boundary (at Reykjavick), near the middle of the study area (at Shannon and Valentia) and near the southern boundary (at Brest and Cap Ferret), to increase at Thorshavn, with less significant trends at the other stations. Average wind speeds confirm the above tendencies, with an additional increasing speed at Lerwick, Kirkwall, Malin Head, Belle-Ile and Cap Ferret. To compare changes in wind activity, the data have been subdivided into three periods: until 1975, 1976-1992 and 1993-2008. Frequencies have been computed also for the "winter" (October to March) period, per quadrants, and for occurrences exceeding the speed of 15 ms-1. At Reykjavick a recent increase in the frequency of strong winds has occurred from various directions. Between 62° N (Thorshavn) and 59° N (Kirkwall) strong wind has been increasing since 1975. Minor changes can be observed at Stornoway, whereas at Malin Head the greatest increase for southerlies and westerlies is observed during the 1976-1992 period. At Belmullet, the frequency of strong southerlies has almost doubled since 1992, while at Shannon and Valentia it remains quite low. Finally at Brest and Belle-Ile, westerlies are predominant among winds > 15ms-1. Important changes in time and latitude appear in the correlation with the NAO (North Atlantic Oscillation) index. The highest correlation coefficients, calculated with monthly or seasonal means between the early 1950s and 1975, are observed from between 58° N (Stornoway) and Iceland, whereas low positive coefficients are reported more south. During the period 1976-1992, when increasing NAO index is predominant, positive correlation improves southwards as far as 54° (Belmullet) with some improvement also at Shannon and Valentia, while it remains low or even negative near the French Atlantic coast. Finally in the 1993-2008 period, correlation improves for all the stations south of 54° N (Belmullet), while it weakens more north. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents with a wide spectrum of clinical manifestations, from prenatal virilization and salt-wasting in the neonatal period to precocious pubarche and late-onset hyperandrogenic symptoms during adulthood. A limited number of mutations account for the majority of all mutated alleles, but a growing number of rare mutations are responsible for the disease in some patients. By sequence analysis of the CYP21A2 gene, we identified two novel (I171N and L446P) and two rare (R341P and R426H) mutations in seven Italian patients with CAH. One of the patients was diagnosed with mild non-classical CAH and was found to be a compound heterozygote (I171N/V281L), while all other patients showed severe phenotypes with latent or manifest salt-wasting. The residual activities measured after expression of the four mutant enzymes in COS-1 cells were all below 1% towards both natural substrates (17-OH-progesterone and progesterone) compared with the wild-type protein. All four mutations are, thus, associated with severe enzyme deficiency and are predicted to cause classic CAH if found in trans with other mutations causing severe enzyme deficiency. [ABSTRACT FROM AUTHOR]

An analysis of tide-gauge and atmospheric data reveals that a transient, unusual sea-level drop occurred in mid-April 1997 along coasts of the Nisyros island volcano, SE Aegean Sea. This event had an amplitude several times larger than the average tidal range (∼6 cm) and caused a transient shift of coastal biological zones and a biological anomaly, the signs of which survived for at least one year. This proves first, that the observed sea-level low was an effect of meteorological origin, not related to a clustering of seismicity which affected Nisyros and the wider area. Second, that the coastal biological zoning and the Biological Mean Sea Level (BMSL) are stable and characteristic in each site, and do not depend on short-wavelength fluctuations of the sea level. And third, that biological observations can be used to identify the detailed history of recent sea-level changes caused by tectonic, volcanic or even meteorological effects; the amplitude of such changes may be as low as a few tens of centimeters. An implication of the above is that in rocky, nearly tideless and low-energy coasts, BMSL (which generally corresponds to the Mean Low Waters during spring tides) approximates Mean Sea Level (MSL) with an accuracy similar to that obtained from ∼1 year long tidegauge records, and therefore can define a geodetic datum suitable for all engineering projects. [ABSTRACT FROM AUTHOR]

Abstract The aim of this study was to evaluate the role of inhibin B and the determination of its concentration to diagnose testicular damage after treatment for a childhood malignancy. Thirty-seven males treated for Hodgkin disease (n = 11) or non-Hodgkin lymphoma (n = 26) were examined at a mean age of 16.9 +/- 2.9 years. Mean age at the stop of therapy was 11.3 +/- 3.0 years and in most cases the chemotherapy regimen included gonadal damaging alkylating agents. Thirty-three normal males (mean age 17.9 +/- 4.1 years) were examined as controls. Serum samples were collected for determination of inhibin B, follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone. Median inhibin values were significantly lower in patients than in controls (96.0 vs 225.0 pg/ml, P < 0.0001) and a strong negative correlation was found between inhibin B and FSH (r = -0.86, P < 0.0001), a weak correlation with LH (r= -0.32, P < 0.05) and no correlation with testosterone. In post-pubertal patients (i.e., over 16 years) a positive correlation was found between testicular size and inhibin level (r = 0.53, P < 0.05), but not between testicular size and testosterone level. Pathological low levels (values that differed by more than 2 SD from the mean value of control subjects) were found in 20 patients for inhibin B and 8 for testosterone (P < 0.01) and pathological high values in 19 patients for FSH and 3 for LH. Conclusion This study confirms the role that inhibin B plays in the regulation of FSH secretion and provides further evidence of the utility of its evaluation as a direct indicator of male gonadal dysfunction. [ABSTRACT FROM AUTHOR]

OBJECTIVE Birth weight influences both postnatal growth and the initial response to GH therapy in GH-deficient subjects, but its relationship to final height is uncertain. Therefore, we examined final height results in a group of subjects treated for GH deficiency who were born small, appropriate or large for gestational age (GA). DESIGN Retrospective study. PATIENTS 108 GH-treated patients (age at diagnosis 11.1 ± 2.0 years) affected by idiopathic and isolated GH deficiency (peak < 8 μg/l after pharmacological and/or nocturnal mean GH concentration ≤ 3.3 μg/l) were examined. Twenty-four had a birth weight < 3rd centile (2300 g ± 268 - small for GA), 77 between the 3rd and 90th centile (3216 g ± 317: appropriate for GA) and 7 above the 90th centile (4193 g ± 143: large for GA). MEASUREMENTS All subjects reached final height (growth velocity < 0.5 cm/year in the last year of treatment) after hGH treatment (range 33–96 months) at a dose of 20 U/m2 /week. The 3 groups of subjects started therapy at a similar height for chronological and bone age. RESULTS Final height in the small for GA group was - 1.71 ± 0.93 standard deviation score (SDS), significantly lower than that of both appropriate (- 1.14 ± 0.83 (P < 0.01)) and large (- 0.70 ± 0.89 (P < 0.01)) for GA groups. Similarly, the small for GA group had a significantly lower height SDS increment from the start of therapy to adult height (0.54 ± 0.84) than both the appropriate (0.99 ± 0.78 (P < 0.05)) and the large (1.49 ± 0.84 (P < 0.01)) for GA groups. The percentage of subjects with final height above target height was significantly different in the 3 groups: 21% for the small, 38% for the appropriate and 71% for the large for GA groups (P < 0.05). In the whole group of patients there was a positive correlation between birth weight and final height (r = 0.38; P < 0.0001). CONCLUSIONS The present study showed that our patients, affected by isolated and idiopathic GH deficiency but with different birth weights, despite starting treatment with a similar height and bone age delay, had different auxological outcomes. It seems, therefore, that final height is strongly influenced by birth weight which penalizes the smaller newborns and assists the larger ones. [ABSTRACT FROM AUTHOR]

The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels in response to exogenous GH therapy, followed by growth arrest a few months after starting replacement therapy. In patient 3 we detected a heterozygous deletion which involved three genes of the cluster (hCS-A, hGH-V, hCS-B) and left an intact hGH-N gene. Direct sequencing of hGH-N specific amplified fragments excluded the presence of any point mutations in exons and splicing regions. In patients 4 and 5 (sisters) our study did not demonstrate any gene deletions. Analysis of polymorphic restriction patterns in this family demonstrated that both sisters inherited the same alleles from the father but different alleles from the mother, suggesting that the defect was not linked to the hGH-N gene. These results confirm the difficulty of clinical identification of subjects with hGH-N deletion and underline the importance of DNA analysis in patients with absence of GH secretion and extreme growth retardation. [ABSTRACT FROM AUTHOR]

Aims: To evaluate the developmental pattern of fetal growth hormone (GH), insulin-like growth factor I (IGF-I), GH binding protein (GHBP) and IGF binding protein-3 (IGF-3); to determine the implications for fetal growth.Methods: Serum GH, IGF-I, GHBP and IGFBP-3 were measured in 53 fetuses, 41 aged 20-26 weeks (group A) and 12 aged 31-38 weeks (group B). Fetal blood samples were obtained by direct puncture of the umbilical vein in utero. Fetal blood samples were taken to rule out beta thalassaemia, chromosome alterations, mother to fetus transmissible infections, and for maternal rhesus factor. GHBP was determined by gel filtration chromatography of serum incubated overnight with 125I-GH. GH, IGF-I and IGFBP-3 were determined by radioimmunoassay.Results: Fetal serum GH concentrations in group A (median 29 micrograms/l, range 11-92) were significantly higher (P < 0.01) than those of group B (median 16.7 micrograms/l, range 4.5-29). IGF-I in group A (median 20 micrograms/l, range 4.1-53.3) was significantly lower (P < 0.01) than in group B (median 75.2 micrograms/l, range 27.8-122.3). Similarly, IGFBP-3 concentrations in group A (median 950 micrograms/l, range 580-1260) were significantly lower than those of group B (median 1920 micrograms/l, range 1070-1770). There was no significant difference between GHBP values in group A (median 8.6%, range 6.6-12.6) and group B (median 8.3%, range 6-14.3). Gestational age correlated positively with IGF-I concentrations (P < 0.0001) and IGFBP-3 (P < 0.0001) and negatively with GH (P < 0.0001). GHBP values did not correlate with gestational age. Multiple regression analysis showed a negative correlation between GH:IGF-I ratio and fetal growth indicesConclusions: The simultaneous evaluation of fetal GH, IGF-I, IGFBP-3 and GHBP suggests that the GH-IGF-I axis might already be functional in utero. The progressive improvement in the efficiency of this axis in the last part of gestation does not seem to be due to an increase in GH receptors. [ABSTRACT FROM AUTHOR]

New sea-level data for the late Holocene period are reported from twelve atolls of the Tuamotu archipelago: Faaite, Hikueru, Marokau, Hao, Amanu, Tatakoto, Pukarua, Nukutavake, Vairaatea, Tureia, Nukutipipi, and Hereheretue. The data come from coral conglomerate outcrops, coral colonies in growth position, in situ reef framework and marine notches; they give consistent results, and their ages are controlled by 29 radiocarbon datings. The Holocene MSL remained 0.8±0.2 m higher than at present, from before 4000 years BP until at least 1500 years BP, then dropped gradually to the present level. This pattern is very similar to that reported from the northwest Tuamotus, suggesting the absence of measurable differential vertical movements over a distance greater than 1300 km during the late Holocene. Effects of the 1983 cyclones on reef morphology are reported from some atolls and radiocarbon dates of some storm-generated reef blocks are given. [ABSTRACT FROM AUTHOR]

In many Pacific islands, reef tracts possess exposed coral conglomerates ranging in age from the present to about 6,000 years B.P. These reach a maximum elevation of more than 1 metre above the present mean tide level. The outcrops occur mainly as subhorizontal rampart-platforms of poorly-sorted, cemented, skeletal detritus deposited by storm processes. With the aim of clarifying their significance as indicators of Recent sea level changes, we have attempted to determine the environments of lithification of these outcrops. To this end, rock specimens were collected from seaward vertical profiles at various levels of outcrops on French Polynesian coral and volcanic islands. For each outcrop, two sequences of marine cementation could be defined on the basis of petrological criteria: (1) a lower sequence exhibiting at least three generations of cements. The earlier generations are characterized by high amounts of high-magnesian calcite pelleted micrite normally completely occluding interparticle pore spaces. The later generation is characterized by the generalized occurrence of irregular rims of truncated aragonite fibers and pendant microstalactites. Residual interparticle porosity is relatively low; (2) an upper sequence mainly exhibiting blunted argonite needles and microstalactites; residual porosity is relatively high. The diagenetic limit between these two sequences defines the position of a former marine water table that is regarded as having been closely related to a former mean low tide level. All this seems to indicate that the lower sequence has spent time in two distinctly different diagenetic environments (phreatic overlain by vadose), whereas the upper sequence has always been within one diagenetic zone (vadose). Thus some relative fall in water table level has occurred after the deposition and early lithification of the lower deposits. Such conglomerates are believed to be useful indicators of former sea stands, particularly interesting in the case of islands devoid of other markers of Recent emergence. [ABSTRACT FROM AUTHOR]

LH-RH tests (50 μg i.v.) and hCG tests (2000 IU/day for 3 days) were carried out in 16 normal boys in stage P1 both for genitalia and pubic hair ( group 1); 7 normal boys over 91/2 years in stage P 1 for genitalia and stage P 2-3 for pubic hair ( group 2); 9 boys in stage P 2-3 for genitalia but stage P 1 for pubic hair ( group 3); 10 boys in stage P 2-3 both for genitalia and pubic hair ( group 4). In 10 prepubertal boys in group 1 ( group 1a) and in all subjects in groups 2, 3 and 4 the levels of Δ4-androstenedione (Δ4), dehydroepi-androsterone (DHEA), dehydroepiandrosterone sulphate (DHEA-S) and 17-hydroxyprogesterone (17-OH-P) were evaluated under basal conditions. In groups 1 and 2 the mean basal and post-hCG testosterone values, and the basal and post-LH-RH (peak, maximum increase and area of the curve) values for LH and FSH were not significantly different. The values of Δ4, DHEA, DHEA-S for the boys in group 2 were higher ( P<0.01, P<0.05, and P<0.01 respectively) than for those in group 1. In the two groups of subjects in stage P 2-3 for genitalia and in different stages for pubic hair, no differences were noted for post-hCG testosterone or for gonadotropins. The basal value of testosterone was higher for the boys in group 4, as was DHEA. The values of Δ4, DHEA, DHEA-S for the boys in group 4 were higher ( P<0.05) than those of group 1a. The values of Δ4 and DHEA in the subjects in group 3 were lower ( P<0.001 and P<0.01 respectively) than those of the boys of group 2. Our data seem to show that: (a) the appearance of pubic hair without a simultaneous increase in the volume of the testes (even if it occurs in the normal period for pubertal development), and cannot be considered an expression of the activation of the hypothalamopituitary-gonadal axis; (b) adrenarche and maturation of gonadal function are two independent processes which are usually linked in time. [ABSTRACT FROM AUTHOR]

Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening. [ABSTRACT FROM AUTHOR]

Thirty-eight obese (13 prepubertal, 25 pubertal) boys, and 17 obese (16 prepubertal, 11 pubertal) girls underwent a thyroid-releasing hormone test with assay of prolactin. Obese pre-pubertal boys had prolactin levels that were significantly below those of the control group both under basal conditions and after stimulus. In the obese pubertal boys the difference was significant only after stimulus. The pituitary prolactin reserve in obese pubertal girls was lower than that of the control group. We conclude that in children and adolescents obesity may induce a hypothalamo-pituitary disorder that affects prolactin secretion. [ABSTRACT FROM AUTHOR]

Twenty-one prepubertal children of small stature, 10 boys and 11 girls, aged from 4-3 to 12-8 years, were studied. Their height was less than 3rd centile, and during the preceding year all had a growth rate less than 4-5 cm/year. Arginine and L-dopa tests were given, and the release of growth hormone (GH) during monitored sleep was investigated. On the basis of the electroencephalogram and horizontal electro-oculogram, sleep was divided into stages 1-2-3-4 and rapid-eye-movement. All the children had a GH response greater than 8 ng/ml in at least one of the two pharmacological tests, and were therefore accepted as not suffering from GH deficiency. In all 21 children during sleep there was at least one secretory peak with GH greater than 8 ng/ml. Of a total of 46 secretory peaks recorded, 22 (48%) took place during deep, slow sleep (stages 3-4), 10 (22%) during light sleep (stage 2), 10 (22%) during REM sleep, and 4 (8%) during wakening. In 4 patients (19%) no secretory peak was observed during stages 3-4, even though there were peaks at other times. The data (a) show that it is essential to monitor GH throughout the night to ascertain with certainty the presence or absence of physiological secretory peaks of GH; (b) emphasise the rare disagreement between pharmacological and physiological tests; (c) suggest the use of this physiological test for GH secretion in those cases where the insulin test may be hazardous. [ABSTRACT FROM AUTHOR]

Twenty-two prepubertal children with unilateral cryptorchidism were treated. None had undergone previous medical or surgical to modify the abnormal position of the testes, all of which were located inthe inguinal canal. Treatment was with luteinising hormone-releasing hormone (LH-RH) nasal spray given for 7 days. 9 boys insufflated 100 microgram LH-RH in each nostril 6 times per 24 hours (1200 microgram/24 h); the remaining 13 boys insufflated 500 microgram 12-hourly (1000 microgram/24 h). An LH-RH test (500 microgram IV) was carried out before and after therapy. Full descent of the testis into the scrotum was obtained in 7 out of the 22 cases; in a further 6 cases the testis moved down the inguinal canal. Basal values of luteinising hormone and follicle-stimulating hormone and those for pituitary reserve remained unchanged before and after therapy, and were similar to the values of a control group. No correlation was found between response to therapy and bone age, testosterone level in serum, basal values or pituitary reserve of luteinising hormone or follicle-stimulating hormone. [ABSTRACT FROM AUTHOR]

Urinary growth hormone was measured in 54 children with short stature who had growth hormone deficiency that was initially diagnosed pharmacologically (arginine and L-dopa) and physiologically (mean growth hormone concentration during sleep evaluated twice). Based on the growth hormone response to pharmacological tests the subjects were subdivided into three groups: group A, 20 subjects with normal response (peak concentration > 8 micrograms/l); group B, 20 subjects with response between 4 and 8 micrograms/l; and group C, 14 subjects with response < 4 micrograms/l. In group A four subjects had an abnormally low nocturnal mean growth hormone concentration (< or = 3.3 micrograms/l). In group C seven subjects had multiple pituitary hormone deficiency and abnormal magnetic resonance imaging. All subjects had urine collected from 8.00 pm to 8.00 am for 4-5 consecutive nights. A positive correlation was found between serum nocturnal mean growth hormone values and urinary growth hormone in all subjects. Mean (SD) concentrations of urinary growth hormone were similar in groups A (18.0 (9.5) ng/g creatinine) and B (13.6 (5.9) ng/g creatinine), but significantly higher than that of group C (3.4 (3.7) ng/g creatinine). Considering as abnormal urinary growth hormones below the lower limit of the range in group A, specificity and sensitivity of urinary growth hormone was 100% and 35% respectively. Sensitivity for groups B and C were 5% and 78% respectively. When considering only the subjects of group C with pathological magnetic resonance findings, sensitivity increased to 100%. In the four subjects of group A with mean growth hormone concentration < or = 3.3 micrograms/l, specificity decreased to 80%. It is concluded that urinary growth hormone assay is characterised by a sensitivity too low to be regarded as improving the traditional diagnostic approach to define growth hormone deficiency, unless it is used to identify subjects with the most severe deficiencies. [ABSTRACT FROM AUTHOR]

Evaluation of the sellar area was performed with magnetic resonance imaging in 101 patients (age range 0.8-27 years) with hypopituitarism, isolated diabetes insipidus, hypogonadotrophic hypogonadism, and central precocious puberty. The hypopituitary patients (n = 70) included multiple pituitary deficiency (n = 23), pituitary deficiency with diabetes insipidus (n = 5), and isolated growth hormone deficiency (n = 42). The patients with multiple pituitary deficiency showed pathological morphological findings in all cases, with stalk and posterior lobe always involved. The group with associated diabetes insipidus had abnormal stalk in four of five cases and posterior lobe not visible in all cases. Only five of 42 (12%) patients with isolated growth hormone deficiency had abnormalities of the sellar area. In two out of four patients with isolated diabetes insipidus posterior lobe was not seen. All patients with hypogonadotrophic hypogonadism (three with Kallmann's syndrome, one Prader-Willi syndrome, and two idiopathic hypogonadism) appeared normal. In precocious puberty (n = 21) the three patients with onset of symptoms before age 2 years exhibited a hypothalamic hamartoma, whereas in the others with onset of puberty between age 2 and 7 the magnetic resonance image was normal in 17 of 18 patients. The probability of finding a pathological magnetic resonance image was considerably high in our patients with multiple pituitary deficiency, isolated diabetes insipidus, and precocious puberty with very early onset of symptoms. On the contrary, purely functional abnormality is suggested in most patients with isolated growth hormone deficiency, hypogonadotrophic hypogonadism, and precocious puberty with later onset of symptoms. [ABSTRACT FROM AUTHOR]

The SRY (sex-determining region, Y) gene is a genetic 'master switch' of gonadal differentiation whose product is present in the male genital ridge before testis formation and is required for its regular development. The SRY protein belongs to the SOX family of transcription factors, which are characterized by a high-mobility group (HMG) domain with DNA binding-bending properties, the ability to mediate protein-protein interactions, and containing signals for nuclear import (NLS). Direct sequencing of the entire coding region of the SRY gene led researchers to identify two new point mutations confirmed on both strands in two independent polymerase chain reactions (PCRs), in two Italian patients: patient 1, referred at birth for unexpected completely female genitalia, as routine amniocentesis showed a 46,XY karyotype; and patient 2 examined at 17 years of age for primary amenorrhoea and virilization signs, such as facial hirsutism and clitoris enlargement.

Capillary blood samples on filter paper were assayed by means of an RIA method (Kit Nichols Institute USA) from 1096 newborns divided into full term, preterm and small-for-date infants. The somatomedin-C (Sm-C) mean value, which did not differ in the three groups, was 0.15 +/- 0.09 IU/ml. One hundred and ten (10%) showed Sm-C disc values less than or equal to 0.075 IU/ml, the minimum value measurable by our method. The day of life and birth weight had a significant influence on Sm-C levels. Gestational age did not have any significant effect. No significant interaction was found among the parameters considered. All the groups presented a progressive increase of Sm-C. Unlike preterm and small-for-date infants, in full term infants the latter increase seemed already to be evident from 5th day of life and reached higher levels from the 7th day of life onwards. In conclusion, Sm-C rates were reduced in the neonatal phase of life, but showed a tendency to rise later. [ABSTRACT FROM AUTHOR]