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M T Muñoz Calvo

Publications and source records attributed to M T Muñoz Calvo.

At least 19 recordsLinked to original sources
PubMed2006

[Transitory neonatal diabetes mellitus and pericentric chromosome 9 inversion].

Neonatal diabetes mellitus is an infrequent carbohydrate metabolism disorder with an estimated incidence of approximately one case every 400,000 to 600,000 live newborns. We present the case of a 1-month-old girl with irritability, polyuria, and a 24-h history of eagerness to feed, without fever or other associated symptoms. The patient's karyotype, obtained by amniocentesis, was 46XX with a pericentric chromosome 9 inversion. Her birth weight and length were 2,230 g (-2.65 SD) and 46 cm (-1.8 SD), respectively. Glycemic determinations during the first 72 h of extrauterine life oscillated between 90 and 157 mg/dl. Physical examination revealed general involvement, skin and mucosal pallor, evident signs of dehydration, and impaired awareness. Laboratory tests revealed glycemia: 1552 mg/dL, pH 7.16, pCO2: 23.7 mmHg; bicarbonate: 8.1 mEq/L, base excess: -19.1, and positive ketonemia. After initial stabilization, the patient was treated with intravenous fluids and continuous intravenous regular insulin infusion (initial dose 0.03-0.05 IU/kg/h). After intensive treatment, breast feeding was restored and a short-acting insulin analog was administered subcutaneously after every feed (0.1 to 0.3 IU according to capillary glycemic determinations). Insulin requirements decreased and were discontinued when the infant was 5 months old. Currently, the patient is 2 years and 7 months old and her glycemia and glycosylated hemoglobin levels are normal. Anti-islet (ICA and GAD) and anti-tyrosin phosphatase (IA2) antibodies were absent, as were mutations in the glucokinase gene (GCK).

Chromosome Inversion↗
PubMed2006

[Triptorelin therapy in girls with central precocious puberty increases body mass index].

INTRODUCTION: The most important complications of central precocious puberty (CPP) in girls are loss of height and multiple psychosocial problems. OBJECTIVES: To study the effect of triptorelin therapy in a cohort of girls with CPP. PATIENTS AND METHODS: Thirty-four girls diagnosed with organic or idiopathic CPP and treated with monthly triptorelin were studied. Age, height in standard deviation (SD), bone age (Greulich and Pyle), height prediction (Bayle-Pinneau), body mass index (BMI) in SD, uterine size (pelvic ultrasound), target height, cranial magnetic resonance imaging, triptorelin dose, and treatment duration were studied. RESULTS: Triptorelin produced a statistically significant reduction in growth velocity and an increase in BMI after 1 year of therapy and these changes were maintained after discontinuation of therapy. Adult height in these patients was in accordance with their target genetic height, as well as with their predicted height according to the method of Bayley-Pinneau. No significant differences were found between age of menarche in our patients and in controls. Adult height in patients with organic CPP was significantly lower than that in patients with idiopathic CPP. CONCLUSIONS: 1. Triptorelin can increase BMI in girls with CPP. 2. The presence of an organic cause in patients with CPP worsens the prognosis for adult height. 3. The Bayley-Pinneau prediction method for "average" bone age is useful for establishing a prognosis of adult height in girls with CPP treated with triptorelin.

Body Mass Index↗
PubMed2006

[Central precocious puberty is associated with a high prevalence of organic disease].

INTRODUCTION: The incidence of central precocious puberty (CPP) is lower in boys than in girls; however, the presence of organic disease is more common in boys. OBJECTIVES: To investigate the percentage of CPP secondary to organic disease in boys and to analyze their clinical and biological characteristics at diagnosis, during follow-up, and at the end of therapy. PATIENTS AND METHODS: Eight boys with a diagnosis of CPP treated with triptorelin every 28 days were included. Age, height in standard deviation (SD), body mass index (BMI) in SD, growth velocity in SD, bone age (Greulich and Pyle), predicted height (Bayle-Pinneau), and target height were analyzed. Testicular volume was measured (according to Prader standards) and peak lutein hormone (LH) values and testosterone levels were determined after gonadotropin-releasing hormone (GnRH) stimulus. RESULTS: Seventy-five percent of the patients with CPP had organic disease. After treatment with triptorelin, growth reduction significantly decreased. In contrast, no changes were seen in the difference between bone age and chronological age, due to the slight difference found at diagnosis. Likewise, during treatment, there was no LH peak and testosterone levels were lower than 0.5 ng/ml in response to GnRH stimulus. No changes were observed in weight or BMI. Three patients reached an adult height similar to their genetic height and their predicted height, as estimated by the Bayle-Pinneau method. CONCLUSIONS: 1. Among boys with CPP we found a substantial number of patients with organic disease. 2. Adult height after treatment with triptorelin can reach the normal range. 3. Determination of testosterone levels can be useful in the follow-up of these children during treatment.

Body Height↗
PubMed2003

[Graves' disease in patients with Down syndrome].

Three patients showing the rare association of Down syndrome and Graves' disease are reported. While two of the patients were asymptomatic, the third showed goiter, nervousness, weight loss, and tachycardia. In addition to the typical features of hyperthyroidism, this patient showed right heart failure and hypertransaminasemia, which disappeared with antithyroid treatment. Because Graves' disease is rare in children, and the clinical presentation was unusual in one of our patients, we report three patients with Graves' disease and Down syndrome, and emphasize the importance of periodic evaluation of thyroid function in children with Down syndrome not only to detect hypothyroidism.

Adolescent↗
PubMed2003

[Gynecomastia secondary to Leydig cell tumor].

We describe a 16-year-old boy with Leydig cell tumor who initially presented bilateral gynecomastia with increased estradiol concentrations, decreased testosterone concentrations and normal gonadotropin levels. Testicular ultrasonography showed a tumor in the left testicle, and orchidectomy was performed. Histopathological analysis revealed a Leydig cell tumor. Two months after surgery, the gynecomastia diminished gradually and estrogen levels returned to normal. No recurrences have occurred during a 2-year follow-up.

Adolescent↗
PubMed2002

[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].

BACKGROUND: Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes. OBJECTIVE: To study the androgen receptor gene in two cousins with androgen insensitivity syndrome. PATIENTS AND METHODS: We present two patients who attended our clinic for primary amenorrhea. The phenotype and external genitalia were female. Pelvic ultrasonography showed the absence of uterus and female internal genitalia. In both patients the karyotype was 46 XY and consequently both patients underwent bilateral gonadectomy. Histological examination confirmed that the gonads were testes. Molecular study of the androgen receptor gene was performed to confirm androgen insensitivity syndrome. RESULTS: Both patients showed a thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766) of the androgen receptor gene, causing their phenotype. CONCLUSIONS: To confirm androgen insensitivity syndrome,t he androgen receptor gene should be analyzed for mutations, although the relationship between genotype and phenotype is weak. To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands.

Adolescent↗
PubMed2001

[Renal lithiasis as a manifestation of primary hyperparathyroidism].

Primary hyperparathyroidism is an infrequent condition in infancy and is usually due to adenoma. It may be asymptomatic and is suspected when isolated hypercalcemia is detected in routine investigations. We describe the case of a 13-year-old boy with hypercalcemia presenting as renal lithiasis. Cervical magnetic resonance revealed a 13 x 8 x 5 mm-node in the right parathyroid. Gammagraphy with Cardiolite-Technetium 99 suggested an adenoma in the inferior right portion of the parathyroid. Right inferior parathyroidectomy was performed and ectopic tissue, as well as hyperplasia of the parathyroids, was removed. The histopathological diagnosis was adenoma of the parathyroid gland. After surgery blood calcium levels returned to normal. In conclusion, cervical magnetic resonance and gammography with Cardiolite-Technetium 99 should be performed in children presenting hypercalcemia and laboratory results suggestive of primary hyperparathyroidism. Subsequently, parathyroidectomy should be performed.

Adolescent↗
PubMed2000

[Changes in gonadal function in post-pubertal male survivors of acute lymphoblastic leukemia and Hodgkin's disease].

AIM: To study gonadal function in male patients surviving acute lymphoblastic leukemia (ALL) or Hodgkins disease (HD). PATIENTS AND METHODS: Thirteen postpubertal males were studied (Tanner stage V), 9 with ALL and 4 with HD, who had received polychemotherapy during the pre-puberal period. The control group was composed of 13 male volunteers of similar ages and with complete pubertal development. Testicular size, spermiogram, serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) before and after stimulus with gonadotropin-releasing hormone (GnRH), and serum testosterone levels were determined. The germinal epithelium was believed to be damaged when at least one of the following criteria was present: 1) oligospermia/azoospermia, 2) increase in serum FSH levels before or after GnRH, or 3) reduction in testicular volume. Lesions in Leydig's cells were thought to exist when serum testosterone levels were reduced or when serum LH levels, before or after stimulus, increased. RESULTS: Patients with HD presented clear alterations in germinal function and, to a lesser degree, in the function of Leydig's cells. Significant differences compared with the control group (p < 0.001) were found in peak FSH (19.7 +/- 18 vs 4.8 +/- 1.8 microUI/mL), peak LH (49.2 +/- 31 vs 33.4 +/- 10.0 microUI/mL), serum testosterone (4.1 +/- 0.6 vs 5.9 +/- 0.3 ng/mL) and testicular volume (16.6 +/- 2.8 vs 22.5 +/- 2.4 mL). Of the four patients with HD, three presented azoospermia and one oligospermia. No significant differences in any of the clinical or biochemical parameters studied were found in patients surviving ALL compared with the control group, but two of the nine patients studied presented oligospermia. CONCLUSIONS: The chemotherapy protocols used in the treatment of HD and ALL produced a high incidence of germinal cell damage and subclinical alterations in the Leydig's cell function in males with HD. In patients with ALL, the germinal line was only mildly affected. Prepubertal state does not protect the testes from the harmful effects of chemotherapy.

Adolescent↗
PubMed1996

[Primary hyperlipidemia in children and adolescents: effects of dietary and pharmacological intervention].

A retrospective study was performed on children with hypercholesterolemia or hypertriglyceridemia referred to the Endocrine Clinic of the Niño Jesús University Hospital over a period of 5 years. One hundred twenty-seven children, from 2 to 16 years of age, were followed. The subjects were classified into the following groups: 90 with primary hyperlipidemia [55 polygenic hypercholesterolemia (PH), 23 familial hypercholesterolemia (FH) and 12 with familial combined hyperlipidemia (FCH)]; 2 with secondary hypercholesterolemia and 35 were found to have normal cholesterol and triglyceride values. All patients with primary hyperlipoproteinemia were instructed to carry out dietary intervention during a 6 month period, following the step I recommendations of the National Cholesterol Education Program (NCEP). The following results were obtained: In the group of children with PH and FH a decrease in total and LDL cholesterol was observed (p < 0.0001 for both groups). In the group of FH, a decrease in the LDL/HDL ratio was also observed (p < 0.01). In contrast, the group of children with FCH did not show any changes in the lipoprotein pattern after dietary intervention. In the three groups studied, no statistically significant differences were observed in the remaining parameters (HDL-C, VLDL, and apo A1) after dietary intervention. Lp(a) levels above 30 mg/dl were observed in 25%, 37% and 46% of the children with PH, FH and FCH, respectively. Nine patients with FH were treated with resins for 3 months. In these children a decrease in total and LDL cholesterol, apo B and in the LDL/HDL ratio was observed (p < 0.05). No changes in Lp(a) and HDL-C were observed in this group of children. In our experience, dietary intervention to reduce fat and cholesterol intake in children with primary hyperlipoproteinemia, a population at high risk of developing atherosclerosis, is safe and useful. The treatment with resins in children with FH improves their lipoprotein profile.

Adolescent↗
PubMed1990

[Prevalence of hepatitis B virus in a sample of healthy children in Madrid].

In order to determine the prevalence of hepatitis B virus (HBV) markers, we studied 375 healthy children, 242 males and 113 females, with age ranged between 6 to 14 years, from different schools at the Tetuán district (Madrid). We sent a questionnaire to the parents to investigate the presence of risk factor in the children and/or their parents. All children were screened for hepatitis B markers in serum. Our results shown the existence of HBV markers in 22 (5.9%) children. No major incidence of risk factors was found in the children with serologic evidence of HBV infection.

Adolescent↗