Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

Objective: Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS.

Long-acting lanreotide in adolescent girls with constitutional tall stature.

Background/aims: The aim of the study was to evaluate the efficacy and safety of lanreotide prolonged release (PR) 30 mg (long-acting lanreotide) in girls with constitutional tall stature (CTS).

Methods: This open label prospective study included 35 girls (mean age 12.6 years) with CTS and a predicted adult height of >180 cm.

Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study.

Context: Pediatric management of patients with Turner syndrome focuses on height, frequently resulting in a delay of pubertal induction. The influence of pubertal management on psychosocial adjustment and sex life has not been evaluated in Turner syndrome patients.

Objective: The objective of the study was to identify the determinants of self-esteem, social adjustment, and initiation of sex life in patients with Turner syndrome, particularly those related to pubertal management.

Puberty in subjects with complete androgen insensitivity syndrome.

Background: Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS).

Aims: To evaluate growth, skeletal maturation and gonadotropin and sex steroid secretion in patients with CAIS and intact gonads at puberty.

Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone.

Objective: The objective of this study was to evaluate factors affecting adult height (AH) in patients with Turner syndrome treated with GH.

Design: The study design was a population-based cohort study.

Setting: The setting was The StaTur Study, a register of patients treated in France between 1986 and 1997, followed for a mean of 9.

Growth hormone (GH) treatment to final height in children with idiopathic short stature: evidence for a dose effect.

Objectives: To investigate in an open-label randomized study, the effect of two doses of growth hormone (GH) on final height and height velocity during the first 2 years of treatment of children with idiopathic short stature (mean baseline height standard deviation score [SDS] -3.2).

Study Design: Patients were treated with GH at 0.

Quality of life determinants in young women with turner's syndrome after growth hormone treatment: results of the StaTur population-based cohort study.

GH is used to increase adult height in children with Turner's syndrome with little knowledge of the impact on quality of life. We carried out a population-based cohort study of quality-of-life determinants in young women with Turner's syndrome, all previously treated with GH. Of 891 eligible women aged over 18 yr and recorded in the French Growth Hormone Register, 818 were available and 568 participated (69%).

Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty.

Familial male-limited precocious puberty is a rare cause of precocious puberty due to activating mutations of the LH receptor, leading to early onset virilization and short stature. Two therapeutic approaches have been proposed: the P450 cytochrome inhibitor ketoconazole or combined treatment with spironolactone and testolactone. Results on adult heights have not been reported to date after these two treatments, and in this study we present results from five patients treated with ketoconazole at a median dose of 16.

Precocious puberty and statural growth.

Precocious puberty results mostly from the precocious activation of the gonadotropic axis. Although the age limits have recently been discussed, most physicians consider that onset of pubertal development before the age of 8 years in a girl or 9 years in a boy warrants at least a clinical and bone age evaluation by a paediatric endocrinologist. The major concern in precocious puberty is the underlying condition, and central nervous system or gonadal neoplasm have to be formally excluded as a first step in the diagnosis.

Treatment of growth hormone deficiency in very young children.

Growth hormone (GH) deficiency is a rare disease in very young children and a challenge to the physician in terms of clinical recognition, diagnosis and treatment. Here, we review the available information regarding substitution of GH and other pituitary hormones in this patient group. Our results confirm the severity of the clinical presentation and the rapid loss of height (measured in standard deviation scores) in hypopituitary patients that occurs early in life.

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.

Hypogonadotropic hypogonadism is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. In the absence of pituitary or hypothalamic anatomical lesions and of anosmia (Kallmann syndrome), hypogonadotropic hypogonadism is referred to as isolated hypogonadotropic hypogonadism (IHH). A limited number of IHH cases are due to loss-of-function mutations of the gonadotropin-releasing hormone receptor.

[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases].

We report two siblings with an IMAGe syndrome. IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. This clinical association has only been described in five unrelated males.

Improvement in adult height after growth hormone treatment in adolescents with short stature born small for gestational age: results of a randomized controlled study.

The efficacy of GH for increasing adult height (AH) in short adolescents born small for gestational age (SGA) is unclear, due to the lack of long-term controlled trials. A total of 168 short children born SGA (age, 10.5 yr for girls and 12.

[Critical analysis of treatments with growth hormones in children].

The history of growth hormone treatments in France has been marked by the tragedy of the epidemy of Creutzfeld-Jakob disease secondary to the contamination of preparations of extractive growth hormone, administered between 1983 and 1985. The substitution with biosynthetic growth hormone has suppressed this risk and allow the analysis of long term results. It is still too early to evaluate the efficacy in short stature secondary to chronic renal insufficiency and intrauterine growth retardation.

Evaluation of adolescent statural growth in health and disease: reliability of assessment from height measurement series and development of an automated algorithm.

Objectives: The precise evaluation of adolescent growth spurt is necessary for numerous clinical research studies of growth disorders and treatments. The objectives of our study were: (1) to evaluate the reliability of clinicians' 'manual' evaluation of the adolescent growth spurt from a collected series of height data, and (2) to construct an automated algorithm to determine the duration of the two phases of growth in health and disease (spurt and final slow growth) independent of clinical pubertal stages.

Methods: One hundred and seventy-four growth curves of normally growing, GH-deficient and Turner's syndrome subjects were presented twice to 2 experienced clinicians.

Treatment of central precocious puberty by subcutaneous injections of leuprorelin 3-month depot (11.25 mg).

Depot GnRH agonists are widely used for the treatment of precocious puberty. Leuprorelin 3-month depot is currently used in adults but has not been evaluated in children. We evaluated the efficacy of this new formulation (11.

Effect of gonadotropin-releasing hormone agonist treatment in boys with central precocious puberty: final height results.

Objective: The small number of boys present in most studies on final height (FH) after gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP) offers difficulties in the evaluation of the effects of treatment on FH in males.

Method: We therefore combined FH data from The Netherlands, Italy and France to study the effect of GnRHa treatment in a large group of 26 boys with CPP.

Results: The mean chronological age at the start of treatment was 7.

Adult height after long term treatment with recombinant growth hormone for idiopathic isolated growth hormone deficiency: observational follow up study of the French population based registry.

Objective: To evaluate the efficacy of recombinant growth hormone for increasing adult height in children treated for idiopathic isolated growth hormone deficiency.

Design: Observational follow up study.

Setting: Population based registry.

Amplitude of pubertal growth in short stature children with intrauterine growth retardation.

Objective: Pubertal growth contributes to 15-18% of adult height. A blunted pubertal peak could contribute to short adult height in short children born with intrauterine growth retardation (IUGR).

Design And Methods: Pubertal growth, from onset of puberty to final height, was investigated in 75 short IUGR children: 47 were treated with recombinant human growth hormone (GH) (tx) before pubertal onset (mean dose: 0.

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.

Congenital adrenal hypoplasia (CAH) normally occurs in the neonatal period, with patients presenting with more or less severe salt-wasting syndrome. X-linked CAH has been associated with mutations in the DAX-1 gene, and boys have also been shown to have hypogonadotrophic hypogonadism. Recently, in three unrelated boys, CAH was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and genital abnormalities, defining a new association called IMAGe.

Aetiological diagnosis of male sex ambiguity: a collaborative study.

Unlabelled: A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonadal dysgenesis or true hermaphroditism, the incidence of vaginal development was 100%, a uterus was present in 60%; uni or bilateral cryptorchidism was seen in nearly all cases of testicular dysgenesis (99%) but in only 57% of true hermaphrodites. Mean serum levels of anti-mullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS).

Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

Androgen insensitivity syndromes (AIS) result from the incapacity for T and dihydrotestosterone to virilize male embryos and is mainly attributable to molecular defects of the AR gene. In normal males, T and LH rise during the first few months of life, and this physiological surge is commonly used to evaluate the gonadotropic axis at this age. This neonatal surge has not been evaluated in detail in newborns with AIS.