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R Gracia Bouthelier

Publications and source records attributed to R Gracia Bouthelier.

At least 19 recordsLinked to original sources
PubMed2006

[Macroorchidism: a case report].

Macroorchidism is a rare condition in children and is usually associated with fragile X syndrome. Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency. Bilateral macroorchidism can be a normal variant in adult men. We report the case of an 11.5-year-old boy who was referred to our hospital for evaluation of marked bilateral testicular enlargement in the previous few months. Physical examination revealed a testicular volume larger than 30 ml. Complementary investigations allowed us to rule out all hitherto reported etiologies of bilateral macroorchidism and therefore a diagnosis of idiopathic macroorchidism was established. The increased number of Sertoli cells found on biopsy, without elevated plasma FSH levels, prompted us to speculate about a hypothetical FSH receptor hyperfunction as a possible cause of the exaggerated testicular enlargement in this patient.

Child↗
PubMed2006

[Idiopathic short stature: definition and treatment].

Short stature is the leading cause of consultation in Pediatric Endocrinology. Decreased growth velocity and abnormally short height are characteristic of several different nosologic entities. Some are well characterized, while others correspond to what is known as idiopathic short stature (ISS). ISS includes children who grow less than 2 SD of the mean height values corresponding to their peers of similar age and the same sex, in whom the known causes of short stature have been ruled out. The diagnosis of ISS does not include children who only present a constitutional delay in growth and development. Several clinical trials have demonstrated the efficacy of growth hormone (rhGH) treatment in achieving catch-up growth in these children. Therefore, ISS should be kept in mind in the diagnosis of patients with short stature and abnormal growth patterns, who may benefit from rhGH treatment.

Child↗
PubMed2006

[AIRE gene mutation in polyglandular syndrome type 1].

Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. It has recently been associated with mutations of a single gene found on chromosome 21, designated AutoImmune Regulator (AIRE). We report two patients with APS-1 referred to our hospital for evaluation. The first patient was an 11-year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis. Hypoparathyroidism associated with other processes with a probable autoimmune origin suggested APS-1. Genetic study was performed revealing deletion of 13 base pairs in exon 8 of the AIRE gene. The second patient was a 17-year-old girl with autoimmune hepatitis, hypoparathyroidism, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin. We suspected APS-1 and genetic study was performed. The only finding was an AIRE gene polymorphism. In conclusion, the presence of a single disease criterion is sufficient to suspect APS-1 and to indicate genetic study. Further studies are required to confirm the involvement of other genes in the development of this disease.

Adolescent↗
PubMed2006

[Congenital hyperinsulinism. Review of 22 cases].

INTRODUCTION: Congenital hyperinsulinism (CHI) is the most common cause of recurrent episodes of hypoglycemia in early childhood and consists of a group of distinct genetic disorders causing dysregulation of insulin secretion. OBJECTIVE: To review the presentation, management and outcome of patients with CHI attended at our hospital. MATERIAL AND METHODS: A retrospective review of all patients diagnosed with CHI between 1982 and 2004 was performed. Data were collected on age, gender, clinical presentation, medical and surgical management, and complications. RESULTS: Twenty-two patients were identified. Notable features were early symptom onset in 80 %, pancreatectomy in 72 %, and neurological sequels in 28 % (abnormal neurodevelopment in 22 % and epilepsy in 13 %). CONCLUSIONS: The presentation, management and outcome in our patients were similar to those in other series, indicating the need for early diagnosis and treatment to avoid neurological sequels.

Congenital Hyperinsulinism↗
PubMed2006

[Association between WAGR syndrome and diaphragmatic hernia].

Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R). In the early human fetus, WT-1 is expressed in the pleural and abdominal mesothelium, and consequently this gene may play a role in diaphragm development. The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. We present another infant with aniridia, left cryptorchidism with testicular dysgenesis, right-sided posterolateral diaphragmatic hernia and moderate psychomotor retardation, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.

Hernia, Diaphragmatic↗
PubMed2004

Optimization of treatment in Turner's syndrome.

We discuss treatment for short stature and hypogonadism in patients with Turner's syndrome, using recombinant human growth hormone (GH) and estrogen. We discuss the starting dose of GH, age at start of treatment, and association with oxandrolone or low dose estrogen therapy before 12 years old. We provide recommendations for optimization of therapy for best final height and induction of puberty with estrogen therapy. Our experience in the Children's Endocrinology Clinic in "La Paz" University Hospital, Madrid, is that 83% of our patients need estrogen therapy and only 17% had spontaneous menarche. The average age for puberty induction was 12.2 years, and the average duration of estrogen treatment was 2.1 years. The average final height obtained using GH treatment was 151.3 cm with a gain related to predicted height of 6.8 cm.

Growth Hormone↗
PubMed2003

[Parathyroid cyst in the differential diagnosis of neck masses. A case report].

Parathyroid cysts are rarely seen in clinical practice. They should always be included in the differential diagnosis of neck masses. Conclusive diagnosis should be established by fine-needle aspiration (FNA), a procedure that is useful for both diagnostic and therapeutic purposes.We report the case of girl who aroused clinical suspicion of thyroid node. However, the diagnosis of parathyroid cyst was subsequently confirmed by FNA.

Adolescent↗
PubMed2003

[Growth in children with juvenile idiopathic arthritis].

INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease that often requires steroid therapy. Growth retardation can be a serious complication in some of these patients. OBJECTIVE: To study linear growth in patients with JIA and evaluate the factors involved in its disturbance. METHODS: We studied 91 patients with JIA with a follow-up of at least one year. A cross sectional study, a longitudinal retrospective study, and a longitudinal prospective study were performed. Height in the first consultation, in the cross sectional study, and one year previously was evaluated. Height velocity (HV) was calculated. Several parameters related to disease activity, corticosteroid therapy, nutritional and hormonal status, and bone mineral density (BMD) were analyzed. A correlation study and multivariate regression analysis were carried out. RESULTS: Height was < or = -2 SD in 14.3 % of the series and in 55.6 % of the systemic group. Variables independently associated with height were total corticosteroid dose, functional class, nutritional index, BMD, and age at onset of the disease. HV was < or = 2 SD in 25.3 % of the series and in 61 % of the systemic group. Variables independently associated with HV were corticosteroid dose and the number of swollen joints. CONCLUSIONS: Growth retardation in patients with JIA was associated with factors related to the disease, corticosteroid therapy, nutritional status, BMD, and earlier onset of the disease.

Adolescent↗
PubMed2003

[Diagnosis, treatment and long-term outcome in Cushing's disease].

Cushing's disease is uncommon in childhood. It is usually caused by the oversecretion of adrenocorticotrophic hormone (ACTH) by a pituitary corticotroph adenoma. Clinical abnormality is often undetected for long periods of time. The principal clinical features are growth retardation and obesity. We present four patients who were diagnosed with Cushing's disease in a tertiary hospital from January 1995 to December 2002. There were two boys and two girls, aged 10-15 years. The main clinical features at presentation were growth failure and excessive weight gain. The interval between onset of symptoms and diagnosis ranged from 2.5 to 5 years. All patients presented moon face and increased fat around the neck. In all patients, 24-hour urinary free cortisol was high and loss of normal serum cortisol circadian rhythm (3/3) and suppression of cortisol to less than 50 % of the basal level with high-dose but not with low-dose dexamethasone (2/2) were observed. Pituitary microadenoma was detected by magnetic resonance imaging in three patients; no tumor was detected in the fourth patient and inferior petrosal sinus sampling was performed, showing left lateralization of ACTH central secretion. Therapy consisted of transsphenoidal surgery in all patients. Two patients are in remission, one patient presented disease recurrence requiring total hypophysectomy because the tumor could not be completely removed and one patient had persistent disease after a second intervention and required pituitary radiotherapy. Two patients showed pituitary hormone deficiency after therapy.

Adenoma↗
PubMed2002

[Crouzon's syndrome with acanthosis nigricans].

Crouzon's syndrome is a complex craniosynostosis disorder due to mutations in fibroblast growth factor receptor (FGFR) type 2. We report a female patient with Crouzon's syndrome associated with acanthosis nigricans. The molecular abnormality in this patient is a point mutation (Ala391Glu) in the transmembrane domain of another FGFR (type 3), which is very close to the mutation (Gly380Arg) most frequently observed in achondroplasia. Acanthosis nigricans is an emerging disorder. Its clinical features and molecular findings differ from those of isolated Crouzon's syndrome. These data are very useful when molecular tests are required for prenatal diagnosis.

Acanthosis Nigricans↗
PubMed2000

[Thyroid function alterations in children with congenital cardiac disease after catheterization with iodinated contrast agents].

INTRODUCTION AND OBJECTIVES: Iodinated contrast agents can block thyroid hormone synthesis. The aims of this study were: 1st) to study the incidence of thyroid function disturbances in children with congenital heart disease after cardiac catheterization, 2nd) to analyze the predisposing factors that may lead to the development of hypothyroidism after angiography, and 3rd) to determine the duration of these hypothyroidism states. PATIENTS AND METHODS: From february 1993 to April 1997 thyrotropine (TSH) and free thyroxine (FT4) serum values were analyzed before cardiac catheterization and in the two following weeks, in 99 children under three years of age, with congenital cardiac disease. Those patients who showed any postangiography increase in TSH were further evaluated by weekly measures of serum thyroid hormones and TSH until normal values were obtained or until the initiation of hormonal replacement therapy. The patients' data (age, previous exposure to contrast agents, cardiac disease, associated extracardiac malformations, renal failure, severity of illness, treatment) and the catheterism data (the dose and type of contrast and the fluoroscopy time) were included in the univariant analysis. RESULTS: 10 mUI/ml), that persisted beyond three weeks in six cases. The occurrence of multiple malformation syndromes was the most clearly associated risk factor (p < 0,01) not only in the development of postangiography hypothyroidism but also in longer hormonal dysfunction. CONCLUSIONS: Thyroid function should be tested in every patient with multiple malformation syndrome that undergo angiocardiography with iodinated contrast agents.

Cardiac Catheterization↗
PubMed1999

[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].

BACKGROUND: Achondroplasia, the most common type of genetic dwarfism characterised by disproportionate short stature and other skeletal anomalies, results from a defect in the maturation of the chondrocytes in the growth plate cartilage. Hypochondroplasia, considered allelic to achondroplasia is clinically and genetically heterogeneous. Recent studies have mapped the gene on chromosome 4p16.3, and frequent mutations in the fibroblast growth factor 3 (FGFR3) have been described in these diseases in other populations. PATIENTS AND METHODS: Analysis of the FGFR3 gene mutations Gly380Arg and Asn540Lys in 20 Spanish patients (10 achondroplasic, 6 hypochondroplasic and 4 with skeletal dysplasias with some phenotypic and radiological characteristics of hypochondroplasia) by PCR and restriction analysis. RESULTS: All the achondroplasic patients have shown the same mutation (Gly380Arg) in the transmembrane domain of the receptor. Five hypochondroplasic patients presented the mutation Asn540Lys in the proximal thirosine kinase domain. CONCLUSIONS: Achondroplasia in this sample from Spanish patients is also homogeneous in its molecular basis. Genetic heterogeneity has been found in hypochondroplasia corresponding with the phenotypic diversity in this disease. Molecular analysis of FGFR3 may be an additional diagnostic tool and facilitates genetic counselling in these chondrodysplasias.

Achondroplasia↗
PubMed1998

[Fibroadenoma of the breast in a 17 month old girl].

Breast pathology is uncommon in infancy and adolescence. Fibroadenoma is the most frequent lesion. The juvenile variant is rare, occurring in only 2-7% of all the fibroadenomas. We report a case of juvenile breast fibroadenoma in a patient of 17 months of age.

Breast Neoplasms↗
PubMed1997

[Infants of diabetic mothers (IDM). I -- Macrosomia and growth factors].

OBJECTIVE: The objective of this study was to determine the incidence of macrosomia in infants of diabetic mothers (IDM) and to analyze its possible correlation with insulin, C-peptide, growth hormone (GH) and IGF-I levels in umbilical cord blood. PATIENTS AND METHODS: A prospective study of 58 IDM and 58 control newborns (33 males and 25 females in both groups) was carried out. RESULTS: The incidence of macrosomia was 25.8% in the IDM group and 61.5% in the IIDDM group (infant of insulin-dependent diabetic mother) compared to 5% in the control group. There was a positive correlation between maternal Hgb Alc levels in the third trimester of gestation and insulin and C-peptide levels with newborn weight in the IDM group (especially in the IIDDM group). IGF-I levels were positively correlated with newborn weight in both control and IDM groups. There was no correlation between GH and IGF-I levels in any group.

C-Peptide↗
PubMed1997

[Infants of diabetic mothers (IDM). II -- Fibronectin and perinatal morbidity].

OBJECTIVE: The objective of this study was to determine fibronectin levels in umbilical cord blood of infants of diabetic mothers (IDM) and evaluate a possible correlation with perinatal pathology. PATIENTS AND METHODS: A prospective study of 58 IDM (33 males and 25 females) and 58 control newborns (NB) (33 males and 25 females) was carried out. RESULTS: There were no differences in fibronectin levels between the two groups nor between the sexes. Perinatal morbidity was higher in the IDM group, but there was no correlation between fibronectin levels and the presence of perinatal pathology. CONCLUSIONS: Fibronectin levels are not useful in the perinatal evaluation of infants of diabetic mothers.

Diabetes Mellitus, Type 2↗