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In this study, magnetic resonance imaging (MRI) was performed to document potentially present morphostructural abnormalities of the hypothalamopituitary region in seven infants (age 0-21 months) who presented very early in life with clinical and biochemical evidence of hypopituitarism. Four infants had associated congenital cerebro-facial malformations. The following anatomical abnormalities were identified in variable combinations: ectopic neurohypophysis absence of the pituitary stalk, extreme elongation of the pituitary stalk, aplasia of the anterior pituitary lobe and no identification of the hypothalamopituitary complex. MRI proved to be very sensitive in the identification of structural malformations of the hypothalamopituitary region in infants with or without cerebro-facial malformations. AllhwuLll the magnetic resonance image does not appear to be a good predictor of endocrine dysfunction, it provides us more insight into the precise aetiology of this disorder and may be therefore of diagnostic, prognostic and therapeutic importance. [ABSTRACT FROM AUTHOR]

Growth from birth to the age of 19 years was studied in a patient with the neonatal form of Bartter syndrome. The initial modes of therapy (extra fluid, potassium supplements and triamterene) resulted in satisfactory but not optimal growth. Treatment with spironolactone together with potassium led to impressive catch-up growth. When the patient reached the age of 9 years, indomethacin therapy was started, which resulted in a second growth acceleration and was also accompanied by a significant reduction of both polyuria and hypercalciuria. Puberty developed normally, menarche occurred at 12 years 4 months and a normal adult height of 162 cm was reached at the age of 14 years. Treatment with prostaglandin synthetase inhibitors seems to be the best therapy for children with the neonatal form of Bartter syndrome. [ABSTRACT FROM AUTHOR]

A 7 1/2 year-old boy developed pseudoprecocious puberty. The diagnosis of Leydig cell tumour was suggested by clinical and hormonal findings and greatly facilitated by ultrasonographic investigation of the testes. Surgical exploration was in keeping with the diagnosis and the tumour was removed. Orchidectomy was not necessary. It appears that ultrasonography may be very useful in diagnosing a testicular tumour. It facilitates surgical intervention since it permits localization of the lesion which is usually very small and limited to a small part of the testis, as in this case. [ABSTRACT FROM AUTHOR]

Hearing acuity was assessed in 45 children with sporadic congenital hypothyroidism during adequate long-term treatment. Otoscopy was performed in each and additional tympanometry in some of them. Secretory otitis media was found in 6 and was treated medically or by inserting grommets in the eardrum. In these children, hearing acuity was assessed after the otitis had been cured. Hearing acuity was measured either by conventional monoaural pure-tone audiometry (125-8000 Hz) or by binaural free field testing depending on the child's age (above and below 4 years respectively). Hearing was normal in 36 (80%) children. In the remaining 9, sensorineural hearing loss to some degree was detected affecting the higher frequencies in particular. Perceptive deafness required the use of a hearing aid in 4 children. No relationship could be found between hearing acuity and chronological age or bone age at diagnosis of congenital hypothyroidism or type of hypothyroidism. Sensorineural hearing loss is common in children with congenital hypothyroidism and should be searched for carefully and systematically to avoid difficulties related to speech and language development. [ABSTRACT FROM AUTHOR]

Two prepubertal boys with bilateral cryptorchidism were identified as 46,XX after nuclear sexing studies in several tissues. Gonadal histology and chromosome studies suggested that true hermaphroditism or mosaicism were unlikely. Xg blood grouping was informative in one patient. Accepting paternity, this suggested either that both Xs were maternal, with loss, for example, of the male determining Y chromosome, or that the paternal X chromosome did not express, probably because of a deletion, the allele for the positive Xg blood group. The patients had normal thyroid stimulating hormone reserves but subnormal responses to human chorionic gonadotrophin stimulation, and may need hormonal replacement at puberty. Both had renal anomalies. We suggest that chromosome analysis is essential when cryptorchidism, hypospadias, or microgenitalia are found and that an intravenous pyelogram is desirable. [ABSTRACT FROM AUTHOR]

Serum thyrotrophin (TSH) was estimated by double-antibody radioimmunoassay in 200 children aged 2 months to 16 years with normal thyroid function. There was no apparent variation in TSH with age or sex and only 4 children had TSH levels greater than 5 muU/ml. High TSH values were obtained in 9 children with primary hypothyroidism, in 3 children with thyroiditis, and in one girl with a lingual thyroid. Moderately raised TSH was found in 3 girls with thyroiditis, 2 brothers with goitres due to enzyme defect, and a girl with an ectopic thyroid. In one girl with a defect of iodine organification and in 3 boys with thyroxine binding globulin deficiency the TSH levels were normal despite very low serum thyroxine values. Serum TSH was also estimated in 20 children during treatment for primary hypothyroidism. 3 of these children showed slightly raised TSH levels despite apparently adequate replacement therapy with L-thyroxine. One girl showed a very high TSH level 3 weeks after treatment had been temporarily withdrawn. [ABSTRACT FROM AUTHOR]

Serum levels of insulin-like growth factor I are reduced in patients with Type 1 (insulin-dependent) diabetes mellitus. To evaluate the role of the hepatic growth hormone receptor in the decreased serum concentrations of insulin-like growth factor I, serum levels of the high affinity growth hormone-binding protein, which is qualitatively and quantitatively related to the hepatic growth hormone receptor, and of insulin-like growth factor I were measured in 70 children and adolescents with Type 1 diabetes and 105 healthy control children. Analysis of variance revealed a significant negative effect of Type 1 diabetes on serum levels of the growth hormone-binding protein and of insulin-like growth factor I. In the diabetic patients, serum levels of the growth hormone-binding protein were positively related to body mass index and to insulin dose per kg body weight, and were not influenced by pubertal stage, gender, or plasma levels of haemoglobin A. Serum levels of insulin-like growth factor I increased during early puberty reaching peak levels at midpuberty and decreasing thereafter. No relationship was found between serum levels of growth hormone-binding protein and of insulin-like growth factor I. Our data suggest that decreased liver somatogenic receptor levels, as reflected by the concentrations of circulating growth hormone-binding protein, play a minor role in the suppressed concentrations of circulating insulin-like growth factor I. Post-growth hormone receptor defects or changes in the insulin-like growth factor binding proteins probably contribute more to the lower serum levels of insulin-like growth factor I. [ABSTRACT FROM AUTHOR]

Growth before and during treatment with biosynthetic human growth hormone (hGH) was studied in 13 patients with Turner syndrome (TS) and a growth hormone (GH) response of less than 10 micrograms/l to two standard provocative tests. During 1 year of treatment with hGH (0.15 IU/kg per day) height velocity (mean +/- SD) increased significantly (P less than 0.001) from 3.7 +/- 1.8 cm/year to 7.6 +/- 1.5 cm/year. The auxological data in these girls before and during treatment with hGH were similar to those observed in TS patients with a normal response of GH to pharmacological stimuli. It is concluded that in girls with Turner syndrome GH testing should only be performed when height velocity is below the Turner norm. In TS patients with residual growth potential a clinically significant growth acceleration can be obtained with a higher-than-replacement dose of hGH, i.e. 0.15 IU/kg per day, regardless of GH testing. [ABSTRACT FROM AUTHOR]

Growth data on 100 patients with Turner syndrome are reported. Seventeen had spontaneous puberty. Between the ages 11 and 13 years, height and height velocity were higher in these girls than in those with induced puberty. Final adult height, however, was not different. Patients disomic for Xp chromosome were taller than the monosomic ones, and the majority of them had spontaneous puberty. Significant positive correlations were found between height of Turner syndrome patients and corrected mid parental height, mother's height and father's height from the age of 6 years. It is concluded that in patients with Turner syndrome spontaneous puberty and parental height should be accounted for in the evaluation of linear growth. [ABSTRACT FROM AUTHOR]

Growth data on 100 patients with Turner syndrome are reported. Seventeen had spontaneous puberty. Between the ages 11 and 13 years, height and height velocity were higher in these girls than in those with induced puberty. Final adult height, however, was not different. Patients disomic for Xp chromosome were taller than the monosomic ones, and the majority of them had spontaneous puberty. Significant positive correlations were found between height of Turner syndrome patients and corrected mid parental height, mother's height and father's height from the age of 6 years. It is concluded that in patients with Turner syndrome spontaneous puberty and parental height should be accounted for in the evaluation of linear growth. [ABSTRACT FROM AUTHOR]

One boy and 13 girls with central precocious puberty were treated for 1 year using Buserelin, a GnRH analogue, given intranasally (0.3 mg, four times a day). After 1, 3 and 12 months of therapy, the gonadotropin responses to GnRH were abolished in all the patients whereas mean basal serum concentrations of luteinizing hormone (LH) remained similar to those of pubertal controls. During Buserelin treatment, genital development in the boy and breast development in the girls showed no further progress or some regression. In the boy, serum testosterone levels returned to prepubertal values. In the girls, serum oestradiol levels were variable and, in four of them, vaginal smears showed the persistence of a slight oestrogenic effect during therapy. Pelvic ultrasonography did not show any significant variation in ovarian and uterine lengths. Among the 14 patients, 3 had some progression of pubic hair development, irrespective of serum dehydroepiandrosterone sulphate (DHEAS) levels. In eight patients previously treated with cyproterone, elevated prolactin levels were observed before and during the first month of Buserelin administration. During treatment, mean height velocity was markedly reduced from 11.6 to 6.1 cm/year and mean bone age velocity (+/- 1SD) was 0.85 +/- 0.38 year/year. After 1 year of treatment, the differences in predicted adult height ranged between -0.74 and + 1.04 SDS (standard deviation score). These differences were inversely related (r = -0.72) to the prognosis of adult height calculated before treatment. We conclude that, in central precocious puberty, intranasal administration of Buserelin 1.2 mg/day, may arrest sexual development and reduce height velocity and bone maturation. Improvement of adult height prognosis may occur, especially when it was markedly impaired before treatment. [ABSTRACT FROM AUTHOR]

Three patients with congenital toxoplasmosis and hypothalamo-pituitary dysfunction are reported. All three children were growth hormone (GH) deficient, two were gonadotropin deficient and one had precocious puberty in addition to central diabetes insipidus (DI). It is suggested that congenital toxoplasmosis might result in a neuro-endocrine disturbance and thus be an organic cause of hypopituitarism. Pituitary function and growth should be monitored in children with congenital toxoplasmosis. [ABSTRACT FROM AUTHOR]

The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was found between the total height gain and bone age plus chronological age at the start of therapy. In patients without perinatal problems, the total height gain correlated best with the delay of bone age plus height at the start. The equation constructed from these data allowed a calculation of the predicted adult height. It is shown that the method has an acceptable degree of accuracy. [ABSTRACT FROM AUTHOR]

The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was found between the total height gain and bone age plus chronological age at the start of therapy. In patients without perinatal problems, the total height gain correlated best with the delay of bone age plus height at the start. The equation constructed from these data allowed a calculation of the predicted adult height. It is shown that the method has an acceptable degree of accuracy. [ABSTRACT FROM AUTHOR]

A girl with the Cohen syndrome and isolated growth hormone deficiency is described. Treatment with biosynthetic human growth hormone resulted in marked catch up growth to normal stature. It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature. [ABSTRACT FROM PUBLISHER]

In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature. [ABSTRACT FROM AUTHOR]

An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations. The association is discussed in view of the development of the prosencephalon and its relation to the development of craniofacial structures. [ABSTRACT FROM AUTHOR]

An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations. The association is discussed in view of the development of the prosencephalon and its relation to the development of craniofacial structures. [ABSTRACT FROM AUTHOR]