Giuseppe Bindi

Adult height comparison between boys and girls with precocious puberty after long-term gonadotrophin-releasing hormone analogue therapy.

We examined 22 girls and 11 boys with idiopathic precocious puberty (IPP) treated with a GnRH analogue for a period of about 4 y. The purpose of our study was to evaluate possible differences between the two sexes in bone growth and skeletal maturation during treatment and in the achievement of final height, and also to study the relative contribution of particular hormones–sex steroids, DHEAS, GH and IGF‐I–during the pubertal growth spurt. At the beginning of therapy mean chronological age (CA) was 7.61 ± 0.84 y in boys and 7.32 ± 1.06 y in girls. After the first year of treatment, growth velocity and Dbone age/Dchronological age (ΔBA/ΔCA) ratio had declined significantly in both groups. At the end of therapy we observed a statistically relevant increase in predicted adult height in both sexes, with a more appreciable mean gain (expressed as SDS) being achieved by male patients. During the first year following discontinuation of treatment, a significant increase in the ΔBA/ΔCA ratio was observed in both males and females; by contrast, growth velocity increased only in male patients. Adult height SDS was thus greater in boys (0.13 ± 0.91) than in girls (‐0.62 ± 0.88,p < 0:05). With regard to endocrinological data, oestradiol and testosterone were significantly reduced during the first year of therapy, while DHEAS levels increased slightly in both sexes throughout the course of treatment. GH peak after clonidine and IGF‐I concentrations remained unchanged in both groups. Also, a study of nocturnal GH secretion (10 subjects) showed no noteworthy decrease in any of the patients, whether in terms of mean GH, of the sum of pulse amplitudes, or of pulse frequency. In conclusion, our data indicate that boys achieve more significant results in terms of adult height than girls. With reference to endocrinological data, the effect of sex steroids on bone maturation seems to be more significant than previously thought, and we hypothesize a different role for androgens and oestrogens in regulating height velocity and bone maturation in both male and female subjects during pubertal growth spurt.

Thyroid function and morphology in patients affected by Williams syndrome

Objective  To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS).

Changed bone status in human immunodeficiency virus type 1 (HIV‐1) perinatally infected children is related to low serum free IGF‐I

introduction  Adults and children affected by human immunodeficiency virus type‐1 (HIV‐1) infection show bone demineralization. Little is known about skeletal status using a quantitative high‐frequency ultrasound (QUS) technique in these patients.

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been studied, but investigation of bone metabolism and quality in this kind of patients are not available. In this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment.

Precocious Puberty in a Girl with Floating-Harbor Syndrome

Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, speech problems, and peculiar craniofacial features. In these patients pubertal development has been reported to be normal. In this paper, we describe a girl with FHS who developed precocious puberty. FHS diagnosis was made at 2 years 5 months on the basis of peculiar clinical features. At 7 years 7 months, the girl began pubertal development; her height was 112.5 cm (-2.42 SDS) and pubertal staging was B2 PH2 AH1. LHRH test underlined LH and FSH peak values of 11.7 mIU/ml and 6.2 mIU/ml, respectively. Plasma levels of 17beta-estradiol were normal (8.5 pg/ml). Ophthalmological and neurological examinations, including nuclear magnetic resonance imaging of the brain, were normal. Treatment with gonadotrophin-releasing hormone analogue was begun. At 10 years 1 month, because of reduced height velocity, her growth hormone secretion was evaluated with diagnosis of neurosecretory dysfunction; hGH therapy was begun. The patient showed a good response to hGH treatment, reaching a normal adult height (156.1 cm; -1.20 SDS). This report suggests that, in patients with FHS, precocious puberty should be taken into consideration; in these patients, a careful endocrinological followup for the possible presence of growth and pubertal disorders is needed.

Precocious, early and fast puberty in males with Chiari I malformation.

Type I Chiari malformation is a disorder characterized by a displacement of the cerebellar tonsils through the foramen magnum into the upper cervical spinal canal and, contrary to type II Arnold-Chiari malformation, without the presence of myelomeningocele. As described in the literature, patients suffering from Arnold-Chiari malformation with myelomeningocele can frequently present with precocious puberty, whereas only one report shows an association between Chiari I malformation and early puberty. We describe three young males--8.8, 9.4 and 10.4 years old--who were diagnosed with precocious, early and fast puberty associated with type I Chiari malformation. In patients 2 and 3, the reason for diagnostic management recommendation was a rapid progression of pubertal development over one year. None of the patients manifested hypophyseal-hypothalamic axis dysfunction other than sexual precocity. Neurological and ophthalmological examinations were normal in all patients. Our data show that type I Chiari malformation can be considered one of the possible causes for precocious, early and accelerated puberty in male patients, suggesting the need to carry out brain nuclear magnetic resonance imaging in order to investigate the presence of this malformation.

Congenital hypothyroidism in Young-Simpson syndrome.

We describe a patient with the clinical spectrum of Young-Simpson syndrome. This rare genetic disorder is characterized by congenital hypothyroidism, mental retardation and blepharophimosis. Young-Simpson syndrome is, at present, poorly known to endocrinologists and pediatricians, and should be included in the differential diagnosis of congenital hypothyroidism. It is important to underline that the association of congenital hypothyroidism, blepharophimosis and ptosis allows an exact clinical diagnosis, since the majority of other clinical aspects are common to other disorders.

Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height.

Anhidrotic/hypohidrotic ectodermal dysplasia is a rare disorder, genetically heterogeneous, commonly X-linked recessive inherited, characterized by hypoplasia up to the absence of the eccrine glands with hypo-anhidrosis and secondary hyperpyrexia, hypodontia and some typical craniofacial features. Some papers have described how these patients may show poor growth, while other recent research shows normal growth. We report a boy with anhidrotic/hypohidrotic ectodermal dysplasia and growth hormone neurosecretory dysfunction, an association not previously reported, and we discuss the possible causes as well as the patients response to growth hormone treatment until he reached final height.