▪ Abstract Prolactin (PRL) is a paradoxical hormone. Historically known as the pituitary
hormone of lactation, it has had attributed to it more than 300 separate actions, which can be …

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Human prolactin (PRL) is currently viewed as a hormone of pituitary origin, whose
production (ie serum levels) is controlled by dopamine, whose biological actions relate …

Background and objective Mutations in bone morphogenic protein 15 (BMP15) and
growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human …

A single natural loss of function mutation of the follicle stimulating hormone receptor (FSHR)
has been described to date. Present in the Finnish population it markedly impairs receptor …

Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to
cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare …

Objective: In contrast to subfertility often reported in women suffering from the classical form
of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in …

Sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT) are the most
prevalent monogenic disorders worldwide. Trial HGB-205 (NCT02151526) aimed at …

STUDY QUESTION What are the prevalence and the outcomes of spontaneous pregnancies
(SP) in a large cohort of French women with Turner syndrome (TS)? SUMMARY ANSWER …

Context: Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-
hydroxylase deficiency is one of the most frequent autosomal recessive diseases. Objective …