Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region

Unmasking an obstinate fever

We report our experience with a girl hospitalized due to factitious fever

Final height and body mass index in adult survivors of childhood acute lymphoblastic leukemia treated without cranial radiotherapy: a retrospective longitudinal multicenter Italian study

Young adult survivors of childhood acute lymphoblastic leukemia (ALL) treated with protocols including cranial radiotherapy demonstrate a persistent weight gain and reduced final height. Published reports on the effects on growth of different oncologic therapies are conflicting and difficult to interpret because they combined children treated with both cranial irradiation and multi-agent chemotherapy. Our study investigated the effect of chemotherapy alone on body mass index (BMI) and on growth at the achievement of final height in a homogeneous cohort of Italian childhood ALL survivors

Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''}

No Abstrac

Progressive osseous heteroplasia in a 7-year-old girl with osteoma cutis and autoimmune thyroiditis: the importance of investigating GNAS mutations

A progressive osseous heteroplasia is described in a 7-year-old girl with osteoma cutis: she was found to have autoimmune thyroiditis with a confirmed GNAS mutation

In vitro IgE synthesis in neonates with different family history of atopy

In this study we want to correlate family history of atopy and in vitro synthesis of IgE, IL4 and IFN gamma in 5 neonates with biparental (group A), 5 with uniparental (group B) and 5 with absent family history of atopy (group C). An aliquot of neonatal blood mononuclear cells (NBMC) was incubated in presence of PHA in combination with the phorbol ester acetate (TPA). The supernatants of cultures were harvested after 48-72 hours of incubation and stored at -20 degrees C until testing for lymphokine production by ELISA kits. Only one neonate of group B showed detectable in vitro synthesis of IL4 (45 pg/ml) after PHA + TPA stimulation. All the others failed to produce detectable levels either of IL4 or IFN gamma. Another aliquot of NBMC was cultured in the presence of saturating concentrations of rhIL4 for 48 h. After this pre-incubation step, the non-adherent cells were cultured in the presence of: 1) rhIL4; 2) rhIL4 + anti-IL4 antibody (Ab); 3) rhIL4 + anti-IFN gamma Ab; 4) rhIFN gamma, 5) rhIFN gamma + anti-IFN gamma Ab + rhIL4; 6) PWM + rhIL4; 7) unstimulated culture. The supernatants of these cultures were tested for their IgE content. In general, spontaneous IgE production by NBMC was very low, rhIL4 did not induce a significant increase of IgE synthesis. The other modalities of stimulations did not produce significative changes. We did not observe significative differences among the three groups of neonates. On the basis of our results, we conclude that NBMC aren't able to produce significative amounts of IgE in vitro either spontaneously or after IL4 stimulation. This test and the evaluation of IL4 and IFN gamma in vitro production aren't useful markers of atopy predisposition

[Intracranial hemorrhage in congenital factor II deficiency]

A case of congenital defect of factor II is reported. It concerns a newborn with a not traumatic haematoma due to congenital hypoprothrombinaemia, which is rarely described in scientific literature

Incidental Finding of Idiopathic Unilateral Adrenal Calcification in an 18-Month-Old Child: Case Report and Review of the Literature

The presence of calcified lesions in the adrenal gland requires a careful endocrine, microbiological and radiological evaluation combined with detailed clinical history to confirm its non-evolving nature and avoid unnecessary surgery. We report an 18-month-old male child hospitalized with an incidentally discovered calcification in his right adrenal gland. All biochemical data as well as liver, renal and adrenal function tests were normal. Abdominal computed tomography scan showed that the right adrenal gland was completely occupied by a large calcification, which was put in relationship with an undetected adrenal distress during the neonatal period, as macrosomy and clavicle fracture of the newborn could let us suggest. Our report describes the diagnostic approach to disclose the nature of a suprarenal mass, which is particularly problematic when this is found incidentally. In addition, an extensive review of the medical literature dealing with non-traumatic adrenal calcifications and haemorrhages in children has been carried out

Treatment of undescended testes with hMG and hMG plus hCG: clinical, hormonal and sonographic evaluation

20 children (mean age 4, 6 yrs), of whom 13 had unilateral and 7 had bilateral cryptorchidism were treated with hMG: 40 I.U. three i.m. injections per week for six or eight weeks. Where there was no descent of testis, treatment was continued with hMG at the same dosage plus hCG 500 I.U. one i.m. injection per week for an additional four weeks. The children were tested for FSH, LH and Testosterone serum levels at the beginning of treatment and after 6, 8 and 14 weeks. We obtained testicular descent in 10 out of 20 cases treated. Ultrasonography enabled us to locate the undescended testes in all cases and to follow the response to treatment