Rogelio H. A. Ruvalcaba

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia

We report two adult males with the Sotos syndrome, who also presented intestinal polyposis and pigmentary spotting of the shaft and glans penis. We propose that patients with the Sotos syndrome may develop hamartoneoplastic disease and we urge clinicians to consider this possibility in those patients.

Growth Hormone Secretion in Prader‐Willi Syndrome

ABSTRACT. Integrated 12‐hour growth hormone secretion studies, peak growth hormone response to clonidine provocation. Somatomedin‐C levels, T‐4 and TSH levels were studied in six growth‐retarded children with the Prader‐Willi syndrome, of whom five had a 15 q‐karyotype. Only one of the subjects was obese. All showed abnormally low growth hormone secretion. None achieved a nocturnal peak above 10 μg/l, none had a mean nocturnal level over 1.8, and none showed a level above 8 μg/l after clonidine provocation. These findings contrasted with normal TSH in all and normal T‐4 in five. These findings suggest that the poor linear growth in the Prader‐Willi syndrome is caused by a true deficiency of growth hormone secretion, and that the low growth hormone levels observed in such cases are not an artifact of obesity

A new growth deficiency syndrome

A new syndrome characterized by growth and mental deficiency, unusual facies, hearing loss, generalized muscular hypertrophy, joint limitations and skeletal deformities is described. Older paternal age has been documented in these two cases.

Plasma Somatomedin-C as a Screening Test for Growth Hormone Deficiency in Children and Adolescents

Random plasma somatomedin-C (SM-C) levels were measured in 143 children and adolescents with growth at or below the 5th percentile. 124 patients had short stature due to constitutional delay or geneti

Studies of anabolic steroids. VI. Effect of prolonged administration of oxandrolone on growth in children and adolescents with gonadal dysgenesis.

Twenty-five patients with Turner Syndrome were treated with oxandrolone for six or more months. Mean growth velocity for the first year of treatment was significantly greater than pretreatment control growth velocity. Overall, there was no excessive skeletal maturation. Mean “final” height in nine XO patients (146.4 cm) was significantly greater than mean adult height of an estrogen-treated control group (140.3 cm), while that for five mosaic patients (148.2 cm) was not significantly different from a mean untreated mosaic adult height (145.2cm).

The effects of testosterone treatment in Klinefelter's syndrome*

The effects of 7 months of testosterone therapy in 5 male patients with Klinefelters syndrome are presented. Physical features, bone age, adrenal function, and behavioral characteristics were evaluated for a period of one year. The values of urinary 17-hydroxycorticosteroids, 17-ketosteroids, and pregnanetriol were normal throughout the study; however, significant reduction of plasma 17-hydroxycorticosteroids and 17-hydroxycorticosteroid response to ACTH was observed at the end of the treatment period. Bone age advanced in all the subjects. Gynecomastia decreased with therapy and recurred after cessation of it. Coincidental with the maturation of secondary sex characteristics and acquisition of a masculine physique, behavior was observed to become more assertive and goal directed. Testosterone therapy may be more appropriate during adolescence than in the preor postadolescent periods.

A new familial syndrome with osseous dysplasia and mental deficiency

Two male siblings, born to unrelated parents, presented what we believe to be anew congenital dysmorphic syndrome characterized by mental retardation, short stature, microcephaly, peculiar facies, narrow thoracic cage with pectus carinatum, hypoplastic genitals, hypoplastic skin lesions, and skeletal deformities. The latter included short metatarsals and metacarpals, small phalanges with tufting, and epiphysitis of the spine. Studies of the family revealed two maternal female cousins who had several of the unusual features noted above. The mechanism of inheritance is undetermined, although X-linked semidominant is one consideration.

Use of anabolic agents in treatment of short children

As indicated in previous sections of this review, all anabolic steroids produce acceleration in linear growth in children with short stature. However, the rapid masculinization induced by testosterone and other anabolic steroids and especially the disproportionately rapid epiphyseal maturation produced by these compounds have brought this form of therapy for short stature into disrepute. Not all investigators concur that testosterone therapy inevitably results in reduction of eventual adult height attainment and, depending on the age of onset of therapy and the dose employed, it has been reported that adult height attainment equals or exceeds the adult height prediction at the time of instituting therapy. Attempts to synthesize anabolic steroids with improved anabolic/androgenic ratios have been continuing for many years. Among currently available anabolic steroids it appears that the best separation of anabolic and androgenic properties has been attained with oxandrolone. This is reflected by the fact that most recent studies of growth promotion by anabolic steroids have employed this compound. From the results of these studies, it appears that doses of this drug capable of significant stimulation of growth generally do not cause excessive masculinization or unacceptably rapid acceleration of epiphyseal maturation and do not compromise eventual height attainment. Certain studies mentioned above suggest that it might be possible to devise therapeutic programmes employing other anabolic steroids which would produce equally satisfactory results. However, because of the more favourable anabolic/androgenic ratio of oxandrolone it seems likely that the increasing trend toward use of this drug for growth promotion will continue.

Effects of Testosterone on Body Image and Behavior in Klinefelter's Syndrome: A Pilot Study

Five young mentally retarded males with Klinefelters syndrome were given testosterone enanthate (200 mg) intramuscularly for a period of six to seven months. Physical changes in these subjects during the period of testosterone treatment included the development of a more masculine body contour and an advancement of secondary sexual characteristics. Significant psychological effects included a change from a feminine to a masculine body image, increased assertiveness, increased goal‐directed behavior and heightened sexual drive. One episode of destructive aggression and one delinquent act occurred during the treatment period. The group tolerated well the onset of sexual and aggressive impulses.

Case Report: Familial Growth Hormone Deficiency Associated with Bartter’s Syndrome

Two children, a brother and a sister with growth retardation, and their short adult female sibling presented with isolated growth hormone deficiency. In addition, they had hypokalemic alkalosis and overactive renin-angiotensin-aldosterone system. The mother of these three individuals has short stature plus growth hormone deficiency. Other members of the pedigree have average stature. All the patients are normotensive. In addition to potassium and magnesium administration, the children were treated with growth hormone for more than 12 months. The growth velocity more than doubled during the therapy period. The association between Bartters syndrome and isolated familial growth hormone deficiency is of interest because of the combination of these two rare conditions. To our knowledge, there are no published growth hormone studies on Bartters syndrome, which is also characterized by short stature.