[Treatment of Turner syndrome].
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Adolescent↗
Biomedical subjects
A Ferrández
Publications and source records attributed to A Ferrández.
Multicenter clinical trial to evaluate the therapeutic use of recombinant growth hormone from mammalian cells in the treatment of growth hormone neurosecretory dysfunction.
The efficacy and safety of a 12-month treatment with recombinant human growth hormone from mammalian cells (r-hGH, Saizen) in growth hormone neurosecretory dysfunction (GHND) are evaluated in this study. r-hGH was administered subcutaneously, at a dosage of 0.5 IU/kg/week divided into 6 equal daily doses. A total of 16 (12 M and 4 F) poorly growing patients, height -2.3 SD or more below the mean for chronological age and sex, were included in the study. r-hGH therapy significantly increased the growth velocity; from 3.57 +/- 0.85 cm/year, before therapy, to 7.09 +/- 2.29 cm/year after 12 months (p less than 0.001). Patients' height SD score rose from -3.40 +/- 0.84 SDS to -2.98 +/- 0.69 SDS (p less than 0.01). Somatomedin C increased significantly from a baseline value of 0.59 +/- 0.32 U/ml to 1.26 +/- 0.66 U/ml after therapy (p less than 0.01). Finally, r-hGH therapy improved the pretreatment adult height prediction; from an initial prognosis of -2.66 +/- 0.79 SDS to -2.17 +/- 0.81 SDS after treatment (p less than 0.01). No side effects or adverse reactions were observed during treatment. Anti-r-hGH antibody formation was not found in any of the patients included in the study.
Body Height↗
[Hyperplasia of the pancreatic islets or nesidioblastosis in adults? Apropos 2 cases].
Nesidioblastosis is an anatomopathological situation defined as the transformation or the exocrine ductal epithelium into endocrine tissue which can be hormonally active or inactive. In this study we present two cases which to our knowledge fulfil criteria for nesidioblastosis. Both patients were male (73 and 45 years, respectively) who were admitted to our department because they presented hypoglycemia. Blood examination revealed the existence of an hyperinsulinism although axial computerized tomography, pancreatic echocardiography and selective angiography of the celiac arterial trunk failed to demonstrate the presence of the tumor in either of the two cases. Due to the persistence of the clinical picture in the first case and to the intolerance to the diazoxide in the second patient, a subtotal pancreatectomy was performed in both cases. The surgical procedure involved removal of the 80% and 75% of the head and body respectively. Both patients are presently free of symptoms although the first patient in under diazoxide therapy due to persistent hypoglycemia (more spaced crisis).
Aged↗
Effect of recombinant human growth hormone therapy on bone and clinical parameters in girls with Turner's syndrome. The Spanish Collaborative Group.
Forty-eight girls with Turner's syndrome were assigned to one of three treatments; recombinant human growth hormone (rhGH) alone, rhGH plus oxandrolone, and rhGH plus ethinyloestradiol. Treatment with rhGH alone or in combination with oxandrolone induced catch-up growth. Older girls treated with rhGH plus ethinyloestradiol showed less marked improvement. The gain in height was associated with a gain in bone diameter and cortical thickness (reflecting increased bone mass). There was a rapid loss of subcutaneous fat. These effects of growth hormone are similar to those observed in patients with growth hormone deficiency.
Adolescent↗
[Type I pseudohypoparathyroidism. Study and prolonged follow-up of a case].
The prolonged evolution of a case of pseudohypoparathyroidism with hereditary osteodystrophy (AHO) and osteitis fibrosa is presented. The diagnosis was confirmed by the existence of a peculiar phenotype, hypocalcaemia, hyperphosphatemia, increased PTH values, and a lack of tubular response after PTH and radiological signs of hyperparathyroidism. The clinical and biochemical evolution, under 1.25 (OH)2D3 therapy with special emphasis on the growth and development were shown. The bibliography was also reviewed.
Child↗
[Clinical syndromes caused by alteration of the hGH genes].
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Chromosome Deletion↗
[Developmental quotient/intelligence quotient (DQ/IQ) in children with congenital hypothyroidism].
The aim of neonatal thyroid screening is prevention of mental retardation by early diagnosis and early institution of thyroid replacement therapy. With relatively simple and inexpensive means it should be possible to shift the distribution curve of developmental and intelligence quotients as it was found in hypothyroid patients before the screening towards that one of healthy children. The results of our collaborative study show that we are approaching this aim. However, this study also demonstrates, that risk factors and associated findings may have a considerable influence on mental development and therefore should not be neglected in such an investigation. In response to our inquiry of 1985 we received detailed data on mental outcome of nearly 1,000 individual patients with CH representing not less than 14% of all children with CH detected in Europe since the introduction of neonatal thyroid screening. This shows that in many screening centers, a large number of children have not only been diagnosed and treated, but also followed carefully with respect to their development.
Congenital Hypothyroidism↗
[Growth in congenital hypothyroidism].
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Age Determination by Skeleton↗
[Patterns of growth in congenital adrenal hyperplasia. Correlation between glucocorticoid therapy and stature].
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Adrenal Hyperplasia, Congenital↗
[Diagnostic use of the GRF test in the study of GH secretion].
A good response after an intravenous bolus of GRF-1-29 NH2 in patients with hypopituitary dwarfism localities the site of the GH-deficiency in the hypothalamus (GRF deficiency). These patients could be treated with GH and GRF. Never the less some patients with hypothalamic responses after TRH don't respond after GRF. Probably these non responders need GRF in pulsatile or prolonged administration and T4 substitution before and during the test if TSH is also deficient. At least some cases without GRF response can be accepted as pure pituitary only GH would be effective.
Adolescent↗
[Tests for studying the secretion of growth hormone. Update].
Some tests to study the growth hormone secretion have been analysed. According to our own experience and to the present criteria the physiologic tests seem to be more suitable than the pharmacologic ones. In case of discordant results, those obtained in physiologic tests completed with the clinical data and if necessary with biologic probes are conclusive. The availability of GRF will allow the treatment of some cases of dwarfism of hypothalamic origin, that in our opinion are more frequent than those of pituitary origin. Otherwise the gene studies will contribute to the understanding of some cases of genetic dwarfism and make possible an appropriate genetic counseling.
Anorexia Nervosa↗
Some comparative aspects of a longitudinal growth study in normal Spanish children and other longitudinal studies.
The differences existing among some european longitudinal growth studies make it necessary to be cautious in the use of standards constructed on different populations. The improvement of the environmental conditions during the last 20 years is probably the most important cause of the "catch-up" phenomenon of the spanish stature. It is probable that racial characteristics also play a role, even in the same country as can be appreciated on comparing two spanish longitudinal studies based on children originally from different regions. All of which indicates the need to use own standards in those countries which, like ours, have lived through a period of intense changes. Even exploratory studies of regional differences in the same country seem necessary.
Age Determination by Skeleton↗
[Nanism with high values of GH and no generation of somatomedin after hGH (Laron's syndrome). Clinico-biochemical study of 8 cases].
Eight familial cases with Laron type dwarfism (LTD) are presented. An autosomic recessive transmission seems to be possible with clear predominance in females (6/2). This syndrome first described in Jewish people is probably frequent in our country, with clear historic Jewish antecedents in some of our cases. Some features like prenatal growth deficiency, disproportion between face and calvarium and high levels of inmunoreactive GH distinguish clearly LTD from isolated GH-deficiency. The incapability of hGH to increase low somatomedin activity confirms diagnosis. Moreover low or null nitrogen retention after hGH excludes an inactive GH as a cause of dwarfism.
Adult↗
Congenital adrenal hypoplasia in a male with gonadotropin deficiency.
We report the case of a boy with adrenal insufficiency diagnosed at the age of 2.5 months. He required immediate therapy with corticosteroids. His two brothers and a cousin died in infancy with vomiting and dehydration. Aged 17.5 years (bone age 13 years), he showed no signs of puberty, a testicular volume of 2 ml, an infantile penis, and no axillary or pubic hair. There was no evidence of a pubertal growth spurt. The low plasma levels of cortisol, 17-OHP, delta-4-A, LH and FSH did not increase after stimulation with ACTH or LHRH respectively. Urinary testosterone levels before and after HCG were extremely low. These factors strongly suggest the diagnosis of a sex-linked type of adrenal insufficiency (cytomegalic form), associated with gonadotropin deficiency.
Adolescent↗
[Endocrine maturation].
The beginning of puberty is caused by a decrease in high gonadostate sensibility to prepubertal levels of sexual steroids. What produces this change and timing is still unknown. However, it seems that the adrenal (delta-4 Androstenedione) as well as the pineal may play an important role. When it comes to that point, the hypothalamic LH-RH provokes a strong LH, FSH secretion; this triggers the gonadal sex-steroids production, which induces in turn the appearance of the secondary sex characteristics. Two years after the so called "mid growth spurt" begins the pubertal growth acceleration which reaches its peak to 2, 4 yrs later. The pubertal development is regulated by genetic factors. Bone age should be referred as a much better indicator than the chronological age.
Adolescent↗
[Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members].
Authors present a 10 year old boy with Lesch-Nyhan syndrome with self-inflicted mutilations to the lips, tongue and interior cheek wall, partially avoided by tooth extraction. Hand lesions were prevented by arm restriction. Born with anoxia and in spite of seizures for several years and a marked muscle stiffness, he is relatively aware of his surroundings. HGPRT activity in blood and hair was nil, while the APRT activity was increased. The mother, a maternal aunt and grandmother are not carriers. Hyperuricemia measured several times and treated with allopurinol is kept between 3 and 4 mg/dl and lastly under 3 mg after increasing dosage. Some years ago, elimination of acid uric stones in urine was observed without hematuria. It seems that recently stone elimination produced pain difficult to evaluate in this patient.
Adenine Phosphoribosyltransferase↗
[Hypothyroidism acquired in childhood. Apropos of case].
Authors present a patient who, when three years old, was studied because of weight and psychic retardation. Physical data were as following: weight, 9.9 Kg (less than 93); height, 90 cm (P 10-25); head circumference, 43,5 cm (less than P3); bone age, 2 3/12 years, and the thyroid function, normal. I131 uptake, 43.5% after 24 h. TBI: T3 index, 1.07; T4, 7.7 gamma %. FT4 index, 7.2. Thyroid scan, normal. Diagnosis was: intrauterine dwarfism and iron-deficiency anemia. At 6 6/12 years old, he had measles and at this time his mother noted rapid weight gain, decrease in the grow rate, besides a coarse, cold skin and constipation, that did-not previously exist. Thyroid study showed typical primary hypothyroidism: I131 uptake, 14% after 24 h. TBI: T3 index, 1.2; T4, 1.2 micrograms/100. TSH in the test of TRH of 165 micro U/ml base and 245 maximum. Anti-thyroidal antibodies were negative. In view of the time coincidence, authors speculate that measles virus is perhaps the aetiologic agent of the hypothyroidism either directly or through an autoimmune reaction.
Body Weight↗
The trichorhinophalangeal syndrome. Report of 4 familial cases belonging to 4 generations.
Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone dysplasia. This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.
Adult↗