Improved growth with growth hormone therapy in a child with glycogen storage disease Ib.

UNLABELLED: In type Ib glycogen storage disease (GSD) growth is typically affected and short stature is a common feature. Reported use and effect of growth hormone (GH) therapy in children with GSD is limited. We report on the use of substitutive GH treatment in a poorly growing adolescent female with GSD type Ib. The patient's growth velocity increased from a baseline level of 2.5 cm/y to an average growth velocity during GH therapy of 8.7 cm/y. During GH therapy this patient did not demonstrate metabolic decompensation but increased levels of cholesterol and triglycerides were seen (A-1). CONCLUSION: Patients with GSD may experience an improvement in growth response with GH treatment. Prior to GH therapy, treatment of hyperlipidemia associated with GSD should allow the therapy to be safely tolerated.

Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience.

We evaluated the response to growth hormone (GH) therapy in 150 children (97 boys) with Noonan syndrome (NS) by analyzing growth data from children with NS who were enrolled in the National Cooperative Growth Study and compared those data with National Cooperative Growth Study growth data from children with idiopathic growth hormone deficiency (IGHD) and Turner syndrome (TS). Children with NS were significantly shorter than those with IGHD and TS. The annualized growth rates for years 1, 2, 3, and 4 of therapy in patients with NS who were naive to previous GH therapy were significantly greater than baseline. Their growth rates for years 1, 2, 3, and 4 were intermediate between those in children with IGHD and TS and were significantly different from both. A significant improvement occurred in height SD scores for those 42 children with NS who have been monitored for at least 4 years of GH therapy. Three of six boys with NS for whom adult height data were available exceeded their pretreatment predicted heights.

Mullerian inhibiting substance in humans: normal levels from infancy to adulthood.

Mullerian-inhibiting substance (MIS) is a gonadal hormone synthesized by Sertoli cells of the testis and granulosa cells of the ovary. To facilitate the use of MIS for the evaluation of intersex disorders and as a tumor marker in women with MIS-expressing ovarian tumors, we measured MIS in 600 serum samples from males and females. These data show that mean MIS values for males rise rapidly during the first year of life and are highest during late infancy, then gradually decline until puberty. In contrast, MIS values in females are lowest at birth and exhibit a minimal increase throughout the prepubertal years. Whereas MIS is uniformly measurable in all prepubertal boys studied, it is undetectable in most prepubertal female subjects. These data reveal an easily discernible sexually dimorphic pattern of expression and confirm that MIS can be used as a testis-specific marker during infancy and early childhood. MIS values that are above the upper limits for females are discriminatory for the presence of testicular tissue or ovarian tumor, and those below the lower limits for males are consistent with dysgenetic or absent testes or the presence of ovarian tissue. These data will enable normal and abnormal levels of MIS to be differentiated with higher precision and will facilitate the use of MIS in the management of gonadal disorders.

Reversal of an abnormal free fatty acid response to emotional stress in a diabetic adolescent using a portable insulin-infusion pump.

Repeated episodes of ketoacidosis in some juvenile diabetics has been associated with an abnormal rise in circulating free fatty acids (FFA) following emotional stress. Reversal of this phenomenon occurred after treatment with a portable insulin infusion pump (PIIP). Following initiation of PIIP treatment, this abnormal rise in FFA secretion was eliminated, as were the patient's episodes of ketoacidosis. We believe that PIIP treatment should be considered in the poorly controlled compliant diabetic patient.

Sonography of autonomous follicular ovarian cysts in precocious pseudopuberty.

Isolated follicular cysts of the ovary without elevated gonadotropin levels can occur as the primary source of early pubertal changes in young girls. To date, cyst excision or oophorectomy have been the treatments of choice. We studied three girls aged 5 to 8 7/12 years who presented with sexual precocity and revealed autonomous functioning ovarian cysts (2.2 to 5.5 cm). Clinical signs subsided following resection of the cyst in one case and after regression of the cyst documented by ultrasonography in the other two cases. On the basis of these three cases, we believe ultrasonography can be valuable in the workup of sexual precocity caused by primary ovarian cysts. Given that the spontaneous resolution of such cysts is possible, close clinical follow-up of unequivocally benign-appearing large ovarian cysts in young girls with pubertal changes deserves consideration.

Riboflavin metabolism in the hypothyroid newborn.

In the hypothyroid rat the flavin adenine dinucleotide (FAD) content of the liver is similar to that observed in rats maintained on a riboflavin-deficient diet. Thyroxine regulates the enzyme flavin kinase. Human adults with hypothyroidism have levels of erythrocyte glutathione reductase (EGR), an FAD-containing enzyme, in the range indicative of riboflavin deficiency, which can be corrected with thyroxine therapy. In the present study six newborns with severe congenital hypothyroidism because of athyrosis, ectopic thyroidism, or congenital hypothyroidism with Down's syndrome had normal levels of EGR, and treatment with thyroxine had no effect on these levels.