Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), mo...

There is controversy about certain aspects involving the detection, outcome, and management of galactosaemia. 2 The relative rarity of the disorder and lack of prospective studies have made it diYcult for paediatricians to base their advice to parents and their management of patients on good clinical evidence. The UK Galactosaemia Steering Group was established in 1994 to address these problems...

PURPOSE OF REVIEW Puberty is an important developmental stage during which reproductive capacity is attained. Genetic and environmental factors both influence the timing of puberty, which varies greatly among individuals. However, although genetic variation is known to influence the normal spectrum of pubertal timing, the specific genes involved remain unknown. RECENT FINDINGS Recent genetic ...

Presented are 1986 data and trend data (1974-86) on the use and cost of home health agency services rendered to aged and disabled Medicare beneficiaries. Since 1974, reimbursements for these services have grown more rapidly than overall Medicare expenditures. From 1974 to 1986, Medicare expenditures for these services increased from $141 million to $1.8 billion, an average annual rate of 24 per...

BACKGROUND The Logistics Management Institute initially developed a medical cost-avoidance model (MCAM) to estimate the costs associated with the failure to eliminate or control health hazards of army materiel systems during 1997. METHODS Presented is an updated version of the MCAM that uses cost factors for individual health hazard categories. The earlier MCAM calculated army materiel acquis...

11 In conclusion, KS is a rare condition, with a minimal incidence estimate of 1:48 000 in Finland. Approximately 40% of the cases attained a molecular genetic cause for the condition; particularly, Finnish KS women frequently harbored a mutation in FGFR1. A considerable proportion of male patients with HH may recover in early adulthood. We therefore recommend that all adolescents and young adu...