C J Bourdony

Learn More
OBJECTIVE To determine the current prevalence and mean ages of onset of pubertal characteristics in young girls seen in pediatric practices in the United States. METHODS A cross-sectional study was conducted by 225 clinicians in pediatric practices belonging to Pediatric Research in Office Settings, a practice-based research network. After standardized(More)
Premature breast development (thelarche) is the growth of mammary tissue in girls younger than 8 years of age without other manifestations of puberty. Puerto Rico has the highest known incidence of premature thelarche ever reported. In the last two decades since this serious public health anomaly has been observed, no explanation for this phenomenon has(More)
The human LH receptor (hLHR) is a member of the G protein-coupled receptors characterized by the presence of seven-transmembrane (TM) helices. Inactivating mutations of the hLHR lead to Leydig cell hypoplasia (LCH), a form of male pseudohermaphroditism resulting from the failure of fetal testicular Leydig cell differentiation. We have identified three(More)
Hereditary primary adrenal insufficiency syndromes due to ACTH resistance include hereditary glucocorticoid deficiency (HGD) and Allgrove's syndrome (AS). Patients with both conditions present in childhood with failure to thrive, weakness, and fatigue or adrenal crisis; patients with AS in addition have alacrima and achalasia (triple A syndrome). We studied(More)
OBJECTIVE To describe the natural history and estimate the incidence of premature thelarche in girls aged 6 months to 8 years living in Puerto Rico and diagnosed between 1990 and 1995. BACKGROUND In the 1970s and 1980s, several pediatric endocrinologists, based on their clinical experience, acknowledged a dramatic increase in the number of cases of(More)
To study the action of human growth hormone (hGH) on peripheral metabolism of serum thyroxine (T4), an oral loading dose of levothyroxine (1.2 mg/m2) was administered to seven children with hypopituitarism before initiation of hGH therapy. Serum concentrations of triiodothyronine (T3), T4, reverse triiodothyronine (rT3), and thyroxine-binding globulin (TBG)(More)
Familial glucocorticoid deficiency due to corticotropin (ACTH) resistance consists of two distinct genetic syndromes that are both inherited as autosomal recessive traits: isolated ACTH resistance (iACTHR), which may be caused by inactivating mutations of the ACTH receptor (the MC2R gene) or mutations in an as yet unknown gene(s), and Allgrove syndrome(More)
To date the molecular basis and hormonal criteria for inherited mild late-onset 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency congenital adrenal hyperplasia (CAH) have not been defined. We have thus investigated the presence or absence of mutation in the type II 3 beta-HSD gene encoding adrenal/gonadal 3 beta-HSD in each of five premature(More)
Allgrove syndrome (AS), also known as triple-A syndrome, is a rare cause of congenital adrenal insufficiency due to adrenocorticotropic hormone resistance. It is inherited in an autosomal recessive manner and is associated with achalasia, alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy,(More)