Early puberty: rapid progression and reduced final height in girls with low birth weight.

OBJECTIVE: To assess whether, in girls with early onset of puberty, low birth weight is a risk factor for rapid progression to menarche and for short adult stature. DESIGN: Longitudinal clinical assessment of 54 Catalan (Northern Spanish) girls followed from early onset of puberty (onset of breast development between 8.0 and 9.0 years of age) to final height. The timing of menarche and the final height were analyzed a posteriori according to birth weight, the cutoff level between normal and low birth weight subgroups being -1.5 standard deviation (SD; approximately 2.7 kg at term birth). RESULTS: Normal and low birth weight girls had similar target heights and characteristics at diagnosis of early puberty. However, menarche occurred on average 1.6 years earlier in low versus normal birth weight girls (11.3 +/-.3 years vs 12.9 +/-.2 years), and final height was >5 cm shorter in low birth weight girls (parental adjusted height SD: -.6 +/-.2 cm vs.3 +/-.2 cm). CONCLUSION: The timing of menarche and the level of final height in Catalan girls with early onset of puberty was found to depend on prenatal growth. Girls with normal birth weight tend to progress slowly through puberty with a normal timing of menarche and normal final height. In contrast, girls with low birth weight tend to progress relatively rapidly to an early menarche and to a reduced final height. If these findings are confirmed in other ethnic and/or larger groups, then a subgroup has been identified that will most likely benefit from any therapeutic intervention aiming at a delay of pubertal development and/or an increase of final height.

[Immunogenicity and long-term effectiveness of the hepatitis B vaccine in newborns from HBsAg-positive mothers]. / Inmunogenicidad y eficacia a largo plazo de la vacuna de la hepatitis B en recién nacidos de madres portadoras de HBsAg.

We have followed up until age 2 years 25 infants who had received the hepatitis B vaccine to prevent being infected from their mothers who were HBsAg carriers. All had developed antibodies. At 2 years of age, 24% of infants had antiHBsAg titers lower than 10 mU/ml. The geometric mean of antiHBsAg titer in those infants who had received plasma derived vaccine was 660 mU/ml and in those having received recombinant vaccine was 903 mU/ml. HBsAg was negative in all the studied samples. In two infants positive antiHBc were detected.

[Diagnosis by DNA analysis in familial isolated growth hormone deficiency type I-A]. / Diagnóstico mediante análisis del DNA de la deficiencia aislada y familiar de hormona de crecimiento tipo I-A.

We show the autoradiograms of DNA from one child affected of familial isolated growth hormone deficiency type I-A. Restriction endonuclease analysis of DNA isolated from leukocytes was done using 32P-labeled human GH cDNA clone as a probe. DNA analysis using the restriction endonuclease Bam HI revealed that the 3.8 kb restriction fragment, which contain the normal hGH-N gene, was absent. Since these deletions preclude production of any GH-N protein, affected individuals tend to be immunologically intolerant to exogenous GH. The child was homozygote and after treatment with exogenous GH developed a high titre of antibodies to GH and growth arrest. This is the first case of this genetic disorder studied in Spain.

[Alpha 1-antitrypsin deficiency and atresia of the bile ducts]. / Déficit de alfa-1 antitripsina y atresia de vías biliares.

A newly-born male affected by extrahepatic biliary atresia with an alpha-1 antitrypsin pi ZZ deficiency is presented. Parents, Pi MZ, showing no signs of affection either in liver or lungs. His two brothers and one sister died at nine months, 7 years and 22 months respectively. Two brothers showed cirrhosis of the liver, the sister showed extrahepatic biliary atresia, and in all three patients there was an alpha-1 antitrypsin deficiency. Authors want to emphasize the presence of extra-hepatic biliary atresia in both brother and sister who had also an alpha-1 antitrypsin deficiency because this is an infrequent association which requires different treatment.

[Basal cell nevus syndrome and gigantism]. / Síndrome del "nevus" de células basales y gigantismo.

Authors report a representative case of basal cell nevus syndrome with great expressivity. The patient is a thirteen-year and ten-month-old girl. She shows the five major criteria of this disease: basal cell nevi, jaw cysts, skeletal abnormalities (bifid ribs, block vertebrae, rachischisis), ectopic calcifications (falx cerebri, tentorium cerebelli, interclinoid ligaments) and pits on the palms of both hands. Moreover the patient had a right ovarian fibroma with a lot of calcified zones inside as well as several small fibromas of the left ovary. Giantism was associated with this syndrome. This finding has not been published before.

[Hyperinsulinism and peripheral resistance to insulin in a case of leprechaunism]. / Hiperinsulinismo y resistencia periférica a la insulina en un caso de leprechaunismo.

The study of hydrocarbonated metabolism in a newly born affected by leprechaunism is presented. Glycemia throughout the day and with a diet rich in carbohydrates (80 g/day) fluctuated between hyperglycemic (295 mg/dl) and hypoglycemic (37 mg/dl) figures. When ingestion of carbohydrates was reduced to half and the intake fractioned these fluctuations dissappeared. After a glucose overdose (3 g/kg IV) insuline figures were permantely high (from 315 IV/ml to 251 IV/ml). Exogen insulin test (0,1 IU/kg IV) did not reduce glycemia to an improtant level (time 0: 187 mg/dl; time 60: 129 mg/dl). The administration of glucagon (0.3 mg/kg did not normally raise glycemia (35, 54, 31 and 41 mg/dl in times 0', 30', 60 and 120'). In the studied case existed an intolerance to diets rich in carbohydrates, hyperinsulinism and lack of response to insulin and glucagon. Insulino-resistance seems to be of the peripheral type because neither elevated figures of antagonists nor presence of antiinsulin antibodies were detected and the response to exogen insulin was diminished. The underdevelopment of these patients seems to depend upon the alterations of the hydrocarbonates metabolism and the simple improvement of it by means of dietetic measures seems to be of great therapeutic value.

[Cardiovascular manifestations of children's collagenosis (author's transl)]. / Trastornos cardiovasculares en las colagenosis infantiles.

Cardiovascular manifestations of children's collagenosis is revised. Incidence varies in different entities from exceptional to constitute the main clinical characteristic of the disease. The pathogeny of the cardiac manifestations is diverse; heart primary inflammation, arterial hypertension, pulmonary hypertension, etc. The most frequent peripheric vascular symptom is Raynaud's phenomenon. Cardiac symptoms include: tachycardia, cardiac murmurs and dysrhythmias, etc., which are inespecific and appear when the cardiac lesion is important existing a disagreement between high incidence of alterations as there are found in autopsy and the rarity when the clinic diagnosis of cardiopathy was made.

[Hyperosmolar non-ketotic diabetic coma in children (author's transl)]. / Coma diabético hiperosmolar no cetósico en edad pediátrica.

A 12 year old female patient presenting non ketotic hyperosmolar hyperglycemic coma as initial sign of diabetes mellitus is presented. She was successfully treated with continuous infusion of low dose of insulin and saline and glycosaline isotonic sera. Potassium was precociously added to the hydrating solutions. During convalescence she suffered a left iliofemoral thrombophlebitis which remitted with appropriate treatment. In coma stage, C-peptide was close to normal, indicating active insulin production by the pancreas.

[Fahr disease and idiopathic pulmonary hemosiderosis in a 10 year old patient (author's transl)]. / Enfermedad de Fahr y hemosiderosis pulmonar idiopática en un paciente de diez años.

A 10 year old patient with acute respiratory insufficiency, dispnea, cough, temperature, cyanosis and hemoptisis is presented. Cranial X-rays and scanning revealed basal ganglia calcifications. Intense hypocalcemia and hyperphosphoremia were found as well as response to parathyroid hormone administration. A diagnosis of primary hypoparathyroidism and idiopathic pulmonary hemosiderosis was made. These two diseases are associated and related because of the autoimmune nature of both of them.

[Male pseudohermaphroditism due to deficit in the conversion of cholesterol to delta5 pregnenolone (author's transl)]. / Pseudohermafroditismo masculino por defecto en la conversión del colesterol en delta5 pregnenolona.

One patient, aged 13 months, considered phenotipically a female, was admitted with a picture of acute dehydration. Familial history (one sister dead from the same picture at the age of 18 months), clinical data (several episodes of dehydration, dark skin and mucosae, and slight abnormalities in the external genitalia), hormonal examinations (low plasmatic levels of cortisol, aldosterone, androgens and low urinary excretion of 17 hydroxycorticoids, dehydroepiandrosterone and ethiocholanolone), chromosomal examination (karyotype XY) and histological data (normal testis) suggested a diagnosis of male pseudohermaphroditism with complete feminization due to an abnormal conversion of cholesterol in delta5 pregnenolone. Late appearance of the first episode of dehydration, particularly intense cutaneous pigmentation and statural growth and bone maturation both unaffected, are some particular traits of this patient.

[Anosmia and hypogonadism (Kallman's or Maestre de San Juan's syndrome (author's transl)]. / Hipogonadismo y anosmia (síndrome de Kallman o síndrome de Maestre de San Juan).

A patient, aged 15 years and three months, with hypogonadism and anosmia (Kallman's syndrome or Maestre de San Juan's syndrome) is presented. It is an sporadic case, with no associated abnormalities, who had been seen due to a lack of sexual development. Basal levels of plasmatic LH and FSH were lower than the sensitivity threshold of the method: 1.5 mlU/ml. Administration of 100 ng of GnRH alone in one dose did not evoke any change of these levels; when the same dosage was given during five consecutive days, plasmatic levels of both gonadotropins increased. Initial treatment with HCG (5,000 IU, biweekly) evoked very favourable changes in somatic and genital development.

Septic shock in pediatrics.

A review of the septic shock syndrome in pediatrics, analyzing its actual incidence in clinical practice, etiopathological factors, physiopathology, clinical manifestations in the different stages of the disease, diagnostic criteria, prognostic, and treatment is presented.