STUDY QUESTION: At what age does the type of @entity6126 , namely hypothalamic or primary @entity10844 , become established in @entity1 and @entity1 with @entity6038 ( @entity6038 )? SUMMARY ANSWER: The type of @entity6126 becomes established only in late adolescence and early adulthood. WHAT IS KNOWN ALREADY: The etiology of @entity6126 in @entity6038 is heterogeneous and the clinical expression is variable. @entity28884 is common in @entity6038 @entity1 , while combinations of @entity2670 and @entity24859 are seen in @entity1 . STUDY DESIGN, SIZE, DURATION: This is a prospective study of a cohort of 106 @entity6038 @entity1 followed for a mean duration of 4.5 years. Serial blood samples were obtained and assayed for gonadotrophins, inhibin B, anti-Mullerian hormone (AMH), @entity9027 ( @entity2990 ), @entity251 (males), and @entity53 (females). Results were compared with normal reference values obtained from the literature. For the purpose of this study, we defined the following age groups: @entity1 <1 year; @entity1 1-10 years; adolescents 11-20 years and adults >20 years. @entity1 /MATERIALS, SETTING, METHODS: Study @entity1 were 49 males (aged 2 months to 36 years) and 57 females (aged 1 month to 37 years) with genetically confirmed diagnoses of @entity6038 (deletions 60, @entity8882 , imprinting center defect 2) followed in the Israel national multidisciplinary @entity6038 clinic. MAIN RESULTS AND THE ROLE OF CHANCE: Serum LH levels were in the normal range (1.0-6.0 mIU/ml) for 7/10 adult @entity1 , and high in 3, while FSH (normal range 1.0-6.1 mIU/ml) was elevated (34.4    11.5 mIU/ml) in 6 and normal (3.5    1.6 mIU/ml) in 4 @entity1 . @entity251 was low (5.7    3.4 nmol/l) compared with the normal range of 12.0-34.5 nmol/l in the reference population in all @entity1 >20 years. AMH showed a normal decrease with age, despite low @entity251 levels. Inhibin B was normal (241    105 pg/ml) in @entity1 @entity1 , but low or undetectable in most adult @entity1 . Hormonal profiles were more heterogeneous in @entity1 than in @entity1 . @entity53 was consistently detectable in only 7/13 adult @entity1 . @entity25086 was low or undetectable in all @entity6038 females although occasional samples showed levels within the normal range of 15-95 pg/ml. @entity3556 was reported to occur for the first time in eight @entity1 at a median age of 20 years (13-34 years), but only one had regular monthly menses. The type of @entity6126 (primary or secondary) in @entity6038 can be determined only after age 20 years. LIMITATIONS, REASONS FOR CAUTION: The study cohort was heterogeneous, showing variability in BMI, @entity73 and medical treatment. WIDER IMPLICATIONS OF THE FINDINGS: Demonstration of the natural history of reproductive hormone development in @entity6038 suggests that @entity342 replacement may be indicated for most @entity6038 @entity1 in mid-adolescence. Recommendations for hormone replacement in @entity6038 @entity1 need to be individually tailored, serial measurements of inhibin B should be performed, and contraception should be considered in those @entity1 who may have the potential for fertility.

Sexual dichotomy of gonadal function in XXXX from early infancy through the fourth decade.

@entity1 :: ('9606', 'Species') :: ['infant', 'men', 'infants', 'women', 'PARTICIPANTS', 'participants', 'children', 'patients', 'boys'] @entity251 :: ('MESH:D013739', 'Chemical') :: ['testosterone', 'Testosterone'] @entity10844 :: ('MESH:D006058', 'Disease') :: ['gonadal defect'] @entity3556 :: ('MESH:D014592', 'Disease') :: ['Vaginal bleeding'] @entity2990 :: ('CHEBI:16814', 'Chemical') :: ['DHEAS'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive disability'] @entity28884 :: ('MESH:C543092', 'Disease') :: ['Primary testicular failure'] @entity9027 :: ('MESH:D019314', 'Chemical') :: ['dehydroepiandrosterone sulfate'] @entity53 :: ('MESH:D004958', 'Chemical') :: ['estradiol', 'Estradiol'] @entity24859 :: ('MESH:C536961', 'Disease') :: ['gonadotrophin deficiency'] @entity25086 :: ('MESH:C422364', 'Chemical') :: ['Inhibin B'] @entity342 :: ('CHEBI:50113', 'Chemical') :: ['androgen'] @entity6126 :: ('MESH:D007006', 'Disease') :: ['hypogonadism'] @entity6038 :: ('MESH:D011218', 'Disease') :: ['PWS', 'Prader-Willi syndrome'] @entity8882 :: ('MESH:D024182', 'Disease') :: ['uniparental disomy 54'] @entity2670 :: ('MESH:D010049', 'Disease') :: ['ovarian dysfunction']
@entity6038 :: (MESH:D011218,Disease) :: ['Prader-Willi syndrome']
