Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.

Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1-2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic defect might underline this condition. Endocrine investigation revealed the absence of hormonal disturbance for 18 boys (72%). Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. The last patient showed a 17α-hydroxylase/17,20-lyase deficiency as a result of a compound heterozygous mutation of the CYP17A1 gene leading to p.Pro35Thr(P35T) and p.Arg239Stop(R239X) in the P450c17 protein. Enzymatic activity was analyzed: the mutant protein bearing the premature stop codon R239X showed a complete loss of 17α-hydroxylase and 17,20-lyase activity. The mutant P35T seemed to retain 15-20% of 17α-hydroxylase and about 8-10% of 17,20-lyase activity. This work demonstrates that P/PPG had an endocrine/genetic cause in 28% of our cases. PAIS may be expressed only by isolated gynecomastia as well as by 17α-hydroxylase/17,20-lyase deficiency. Isolated P/PPG is not always a 'physiological' condition and should thus be investigated through adequate endocrine and genetic investigations, even though larger studies are needed to better determine the real prevalence of genetic defects in such patients.

[Maternal vitamin D status in Martinique]. / Statut vitaminique D maternel à la Martinique Etude prospective de décembre 2004 à avril 2005 sur 63 femmes enceintes à terme.

OBJECTIVES: Evaluate vitamin D supplementation and vitamin D status during normal pregnancy in Martinique, a Caribbean region with sufficient sunshine for endogenous vitamin D production all year around; and "to validate" or not the necessity of supplementing pregnant women with vitamin D in Martinique. PATIENTS AND METHODS: A prospective evaluation of their vitamin D status was performed over a winter four-month period on 63 healthy women seen at term delivery. Maternal blood sampling for assays of serum 25 (OH)D, calcium, phosphates and alkaline phosphatase activity was realized in working room. All included women answered a questionnaire allowing to know various parameters known to influence vitamin D and calcium status, as their origin, their food habits, their exposure to sunshine, their supplementation or not with vitamin D during pregnancy. RESULTS: The sample represented 15% of the pregnant women seen in the department over the study period; 16% of the women had received vitamin D supplementation during pregnancy; at delivery, mean 25-(OH)D serum level in the total cohort was 32.6+/-10.7 ng/ml, with no value below 13 ng/ml; serum calcium and phosphates levels were in the normal range. CONCLUSION: These data suggest that, during normal pregnancy, and in the absence of any particular risk factor, systematic vitamin D supplementation is not required in the Martinique region.