Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) is one of the less common forms of CAH, corresponding to approximately 1% of the cases, with an estimated annual incidence of 1 in 50,000 newborns. Cases description– two phenotypically female Ecuadorian sisters, both with primary amenorrhea, absence of secondary sexual characteristics, and osteoporosis. High blood pressure was present in the older sister. Hypergonadotropic hypogonadism profile was observed: decreased cortisol and dehydroepiandrosterone sulfate (DHEAS), increased adrenocorticotropic hormone (ACTH) and normal levels of 17-hydroxyprogesterone, extremely high deoxycorticosterone (DOC) levels, and a tomography showed bilateral adrenal hyperplasia in both sisters. Consanguinity was evident in their ancestors. Furthermore, in the exon 7, the variant c.1216T > C, p.Trp406Arg was detected in homozygosis in the CYP17A1 gene of both sisters . We report a homozygous missense mutation in the CYP17A1 gene causing 17OHD in two sisters from Loja, Ecuador. According to the authors, this is the first time such deficiency and mutation are described in two members of the same family in Ecuador.

Integrated care (IC) has potential to improve health care experience and treatment adherence by properly coordinated and stratified care. We aimed to: (i) assess the patients’ perception about the degree of integrality in their care, (ii) identify potential predictors for risk assessment; and, (iii) assess clinicians’ and patients’ expectations about the involvement of general practitioners (GP) specialists in chronic care

Objective The current study aims to demonstrate independent associations between social, educational and health practice interventions as determinants of exclusive breastfeeding in an urban Ecuadorian population. Design Prospective survival analyses. Setting Ecuadorian mother–child dyads in urban settings. Participants We followed-up 363 mother–baby dyads who attended healthcare centres in Portoviejo, province of Manabi, for a median time (P25–P75) of 125 days (121–130 days). Main outcome measures We performed a survival analysis, by setting the time-to-abandonment of exclusive breastfeeding measured in days of life, that is, duration of exclusive breastfeeding, periodically assessed by phone, as the primary outcome. Crude and adjusted mixed-effects Cox proportional hazards model were performed to estimate HRs for each explanatory variable. Results The incidence rate of abandonment of breastfeeding was 8.9 per 1000 person-days in the whole sample. Multivariate analysis indicated the three most significant protective determinants of exclusive breastfeeding were (a) sessions of prenatal breastfeeding education with an HR of 0.7 (95% CI: 0.5 to 0.9) per each extra session, (b) self-perception of milk production, with an HR of 0.4 (95% CI: 0.3 to 0.6) per each increase in the perceived quantity of milk production and (c) receiving early skin-to-skin contact with an HR of 0.1 (95% CI: <0.1 to 0.3) compared with those not receiving such contact, immediately after birth. Conclusions Prenatal education on breastfeeding, self- perception of sufficient breast-milk production and early skin-to-skin contact appear to be strong protectors of exclusive breastfeeding among urban Ecuadorian mother– baby dyads.