Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome.

Background: The aim of this study was to determine the beneficial effects of long-term growth hormone (GH) treatment on final height (FH) in 26 children with Russell-Silver syndrome (RSS).

Methods: Twenty-six patients (16 males) were diagnosed with RSS at a median age of 2.9 years according to clinical criteria.

Bioequivalence studies of omnitrope, the first biosimilar/rhGH follow-on protein: two comparative phase 1 randomized studies and population pharmacokinetic analysis.

This article discusses the bioequivalence of Omnitrope (Sandoz's rhGH biosimilar) and Genotropin (reference rhGH product), assessed in the first 2 clinical phase 1 studies conducted during the development of Omnitrope. Both of these phase 1 studies were randomized, double-blind, crossover studies, each involving 24 healthy volunteers who underwent pituitary somatrope cell down-regulation using octreotide. Three different formulations of recombinant human growth hormone (rhGH) were compared: Omnitrope lyophilisate, Omnitrope liquid and Genotropin (lyophilized powder for injection).

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

Context: Congenital deficiency of the neuroendocrine-specific enzyme prohormone convertase (PC) 1/3 leads to a syndrome characterized by obesity, small intestinal dysfunction, and dysregulation of glucose homeostasis in humans. To date, only two unrelated subjects with this disorder have been reported.

Research Design And Methods: We now report a third proband, a 6-yr-old boy, offspring of a consanguineous union of parents of North African origin, who was homozygous for a novel missense mutation Ser307Leu.

Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.

Objective: 17beta-hydroxysteroid dehydrogenase type 3 isoenzyme (17beta-HSD3) is required to produce testosterone for male sex differentiation. Mutations in the HSD17B3 gene cause 17betaHSD3 deficiency and result in XY sex reversal of varying degree. We report the phenotypes of 14 subjects with 17betaHSD3 deficiency in relation to sex of rearing, androgen production, and HSD17B3 mutations.

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

Background: A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined.

Methods: We sequenced LEPR in 300 subjects with hyperphagia and severe early-onset obesity, including 90 probands from consanguineous families, and investigated the extent to which mutations cosegregated with obesity and affected receptor function. We evaluated metabolic, endocrine, and immune function in probands and affected relatives.

McCune-Albright syndrome: growth hormone and prolactin hypersecretion.

McCune-Albright syndrome (MAS) has a special interest for endocrinologists as its pathogenesis results in hypersecretion of hormones in peripheral endocrine tissues. This can be expressed as precocious puberty, mainly in girls, primary hyperthyroidism, growth hormone (GH) and/or prolactin excess, hyperparathyroidism and hypercortisolism. The incidence of GH excess among patients with MAS has been assessed as up to 21%.

Morbidity and mortality associated with vasopressin analogue treatment.

DDAVP is a drug that should be used with caution for each patient individually. Particular care is needed to avoid fluid overload and rapid fluctuations in sodium concentration. Not only families but physicians as well should be educated and aware of the adverse effects of DDAVP, especially in high risk patients.

Growth hormone / insulin-like growth factor-1 axis during puberty.

Puberty is a dynamic, transitional period of life which is characterized by the acquisition of secondary sexual characteristics leading to the development of fertility. Puberty is accompanied by sexually dimorphic changes in linear growth, body proportions and body composition. The pubertal growth spurt is influenced by a number of factors such as hormones, nutrition, physical activity and general health, acting mostly in concert in order to modify a genetic potential for growth.

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.

Objective: The role of GH in early human growth is unclear. Congenital GH deficiency (CGHD) provides a useful tool to explore this putative role. We have assessed the effects of CGHD on birth size and early postnatal growth, and the further impact of the presence of additional pituitary hormone deficiencies and midline brain defects on these parameters.

Transition from paediatric to adult endocrinology: hypopituitarism.

For patients at the transition stage between childhood and adulthood, cooperation between paediatric and adult endocrinologists is essential for optimum care. Evaluations of patients in transition consist of retrospective assessments of what happened in childhood combined with prospective planning for treatment and follow up into adult life. Successful transfer of patients in transition from paediatric to adult care should follow a general sequence tailored to local circumstances.

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

The type 1 IGF receptor (IGF1R) is required for normal embryonic and postnatal growth. The aim of this study was to determine whether we could detect abnormal IGF1R function in skin fibroblasts from children with an abnormal copy number of the IGF1R gene. We report two children with altered copy number of the IGF1R gene who presented with abnormal growth.

Labial adhesions in a girl with isolated premature thelarche: the importance of estrogenization.

Background: Premature thelarche, a benign condition that affects young girls, has been associated with elevated estrogen levels. On the contrary, labial fusion, a common pediatric gynecological problem, has been associated with low estrogen status. These two conditions are not known to coexist in the same patient.

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males.

Objective: To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients.

Design: A cytogenetic and Y microdeletion study of a random group of infertile men.

Setting: University department.