0000000001230413
AUTHOR
Liotta A
Un caso inusuale di anemia emolitica
UNA STRANA FORMA DI PSEUDOCCLUSIONE INTESTINALE
Squilibrio elettrolitico e iperpigmentazione di cute e mucose: un'associazione temibile
PSEUDOIPOALDOSTERONISMO DI TIPO III IN NEONATO CON GRAVE REFLUSSO VESCICO‐URETERALE BILATERALE
Studio neurofisiologico dei potenziali evocati uditivi e visivi in bambini affetti da malattia di Kawasaki: contributo personale.
CISTI CONGENITA DELLA TESTA DEL PANCREAS: DALLA DIAGNOSI PRENATALE ALL’INTERVENTO PRECOCE
PATTERN ENDOCRINO DELLA SINDROME DI WILLIAMS IN ETA’ EVOLUTIVA: CASISTICA PERSONALE
VALUTAZIONE AUXOLOGICA ED ENDOCRINA NELLA S. DI AARSKORG: CASISTICA PEDIATRICA
Hypogonadotropic hypogonadism in Kabuki syndrome: the story of two adolescents
MICROLITIASI TESTICOLARE BILATERALE IN SINDROME ADRENOGENITALE LATE ONSET
Cisti congenita del surrene ad esordio intrauterino: dalla diagnosi prenatale all'intervento precoce
Apoptosi linfocitaria CD95 e trail mediata in pazienti con pubertà precoce
Congenital adrenal hypoplasia and hearing loss. A case report
We report on the diagnostics, the therapeutics and the follow-up (to 3 years and 5 months) of a newborn affected by X-linked congenital adrenal hypoplasia. After the beginning of substitute hormonal therapy, the patient underwent periodical clinical examinations, with particular attention to the growth, and laboratory tests, which monitored the hormonal pattern. This experience points out the diagnostic role of low maternal levels of urinary estriol during pregnancy and the importance of a prolonged follow-up, so as to discover associated pathologies as early as possible. In our case, in fact, the study of auditory brainstem responses enabled us to recognize a mild transmission hearing loss…
ENDOCRINE, AUXOLOGICAL AND CLINICAL FOLLOW UP IN CONNATAL HIV-INFECTED CHILDREN: PERSONAL EXPERIENCE
Displasia setto-ottica: descrizione di un caso con progressivo deterioramento dei PEV
Interstitial deletion of the long arm of chromosome 1 (1q 25-32): Clinical and endocrine features with a long term follow-up
Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.
FOLLOW-UP AUXOLOGICO ED ENDOCRINO IN PAZIENTI CON SINDROME DI WILLIAMS IN ETA’ EVOLUTIVA
Serum Leptin Levels in young patients with beta-thalassemia major: personal records
IRSUTISMO SEVERO IN SINDROME DI KABUKI: DESCRIZIONE DI UN CASO
Un caso di sindrome di Mauriac nel 2007
APPENDICITE ACUTA COME ESORDIO DI MALATTIA DI KAWASAKI: DESCRIZIONE DI UN CASO
Endocrine, auxological and clinical follow up of connatally HIV-infected children: personal experience
IPOGONADISMO IPOGONADOTROPO IN SINDROME DI KABUKI: DESCRIZIONE DI DUE CASI IN ETA’ EVOLUTIVA
Hormonal, auxological and clinical follow-up in children with connatal HIV infection: personal records
Auxological and endocrinological complications frequently occur in children with connatal HIV infection. These complications seem to be related both to the infection itself and the antiretroviral therapy. Many children consequently show height-weight and pubertal retardation without any evidence of hormonal deficit. We studied 10 children with connatal HIV infection who were enrolled in this analysis and followed up for 7 years in order to evaluate their height-weight growth, pubertal maturation, bone age progression and hormonal pattern [basal Growth hormone (GH) and GH after Clonidine or Insulin stimulation, Insulin-like Growth Factor 1 (IGF-1), Insulin-like Growth Factor Binding Protein …
Complicanze endocrine nella talassemia: studio di 256 pazienti
[Fetal pseudohypoaldosteronism: rare cause of hydramnios].
PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.
Ipotiroidismo in sindrome di Crigler-Najjar di tipo 2 ed eterozigoti per sindrome di Gilbert: quando l’ittero non può regredire.
Malattia di Kawasaki: modalità di esordio e decorso clinico
ADOLESCENTI IMMIGRATE E SINDROME DI TURNER: PROBLEMATICITA’ DI UN FOLLOW UP E DI UNA TERAPIA CRONICA IN DIFFERENTI ETNIE
Polycystic ovary and gonadoblastoma in Turner's syndrome.
Turner's syndrome (TS) is characterized by typical facial features, short stature, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations. Typical karyotype is 45,X0; however, 6% of TS have mosaic patterns including Y chromosome or fragments of Y. This karyotype is a risk factor of developing a dysgerminoma in dysgenic gonads. Furthermore, rare cases of polycystic ovary are described in young-adult patients with TS. We describe the clinical case of a 12-year-old girl with TS treated with GH who showed a good response to treatment. She developed an ovary with histological polycystic pattern and a contralateral gonadoblastoma in the streak gonad. Laparosco…