Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome cases.

[Scholarly and occupational outcomes of the first patients screened in France for congenital hypothyroidism].

A population of 74 young adults born between 1 Jan. 1979 and 30 June 1985 who were screened at birth for congenital hypothyroidism received a questionnaire on their scholastic and occupational achievements in June 2003. The response rate was 74% (49 completed questionnaires and 8 postal returns).

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics.

Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which as the more important factor for IQ at 7 years?

Objective: To determine between timing and LT4 dose which was the more important factor for IQ at 7 years in screened congenital hypothyroidism (CH).

Methods: 131 children with CH born from 1979 to 1994 and 30 controls were studied. Mean age at recall: 22.

Adult height in congenital hypothyroidism: prognostic factors and the importance of compliance with treatment.

Objective: To study the growth, puberty and compliance of 66 hypothyroid children and to determine prognostic factors for adult height.

Patients: 66 children were included (12 boys, 54 girls). Aetiologies were 43 ectopic glands, 14 thyroid agenesis, 9 dyshormonogenesis.