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Introduction: There is little research on how obstetrics and gynecology (Ob/Gyn) residents deal with female sexuality, especially during pregnancy., Aim: The aim of this study was to assess the training, attitude, and practice of Ob/Gyn residents about sexuality., Methods: A cross-sectional survey of Brazilian Ob/Gyn residents enrolling in an online sexology course was conducted. A questionnaire assessed their training in sexuality during medical school and residency and their attitude and practice on sexual issues during pregnancy., Main Outcome Measures: Training, attitude, and practice of Ob/Gyn residents regarding sexuality were the main outcome measures., Results: A total of 197 residents, from 21 different programs, answered the online questionnaire. Mean age was 27.9 ± 2.2, most were female (87%), single (79%), and had graduated in the last 5 years (91%). Almost two-thirds (63%) stated that they did not receive any training at all and 28% reported having only up to 6 hours of training about sexuality in medical school. Approximately half of the respondents (49%) stated that they had received no formal training about sexuality during their residency up to that moment and 29% had received ≤6 hours of training. Over half (56%) never or rarely took a sexual history, 51% stated that they did not feel competent or confident to answer their pregnant patients' questions about sexuality, and 84% attributed their difficulties in dealing with sexual complaints to their lack of specific knowledge on the topic., Conclusion: The vast majority of Brazilian Ob/Gyn residents enrolling in a sexuality course had little previous formal training on this topic in medical school and during their residency programs. Most residents do not take sexual histories of pregnant patients, do not feel confident in answering questions about sexuality in pregnancy, and attribute these difficulties to lack of knowledge. These findings point to a clear need for additional training in sexuality among Brazilian Ob/Gyn residents., (© 2015 International Society for Sexual Medicine.)

Introduction: Sexual difficulties and questions regarding sexual function are frequent in pregnancy, yet they are infrequently discussed in academic communities, medical schools, and residency programs. Embarrassment, lack of experience, inadequate communication skills and insufficient knowledge on how to deal with sexual complaints, and questions in pregnancy are common, especially among young health professionals., Aim: The aim of this study was to assess and compare the attitude and behavior of Brazilian residents in three different medical programs (obstetrics-gynecology, internal medicine, and psychiatry) toward sexual health issues of pregnant patients., Methods: Survey conducted in a single Brazilian university using anonymous self-responsive questionnaires on how residents deal with sexual health issues of obstetric patients. A total of 154 residents from the three different programs (47 obstetrics-gynecology, 33 psychiatry, 74 internal medicine) participated., Main Outcome Measures: Attitude and practice of medical residents regarding sexual health issues of pregnant patients., Results: Less than 20% of the residents reported that they routinely asked obstetric patients about their sexual health, although almost 70% stated this should be part of every history. Psychiatry residents were significantly more likely to actively seek information about the sexual health of obstetric patients than others (57.6%, 17%, 4.1%, psychiatry, obstetrics-gynecology, internal medicine, respectively, P<0.001). Although over 80% answered that most obstetric patients react well or indifferently to questions about sexual function, less than 25% of the residents reported being completely confident answering these questions, and 71% of them admitted that they lacked specific knowledge in the area of sexual dysfunctions. The two main obstacles in evaluating patients' sexuality were lack of specific knowledge and not enough time to explore these aspects in medical consultations, reported by 71% and 20% of all participants, respectively., Conclusions: Most residents do not feel comfortable or confident and lack specific knowledge and skills to deal with questions related to sexual problems during pregnancy., (© 2012 International Society for Sexual Medicine.)

Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature. The proband was first seen at 22 years complaining of anosmia and lack of puberty. His brother had puberty at 30 years and a maternal granduncle had anosmia and delayed puberty. On physical examination, he was P(2)G(1), testes were 3 ml and bone age was 14 years. During 20 years of irregular testosterone replacement, he developed secondary sexual characteristics and testicular enlargement. At the age of 41 years, after stopping testosterone replacement for 5 months, his testes were 15 ml, serum testosterone, LH, and FSH responses to GnRH were normal, and his wife was pregnant. The molecular study revealed a cytosine insertion in exon 2 of KAL1, generating a frameshift at codon 75 and a premature stop at codon 85. The expected gene product is a truncated peptide with 85 of the 680 [corrected] amino acids present in the wild-type protein. Fourteen cases of reversible KS have been described but the genotype was only studied in a single case showing a heterozygous fibroblast growth factor receptor type 1 (FGFR1) mutation. Considering the low prevalence of mutations in KAL1 or FGFR1 in KS, it is possible that these genotypes are more prevalent in reversible KS than in other KS patients, but additional studies are necessary to confirm this hypothesis.

Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of GH and one or more of the other anterior pituitary hormones. Prophet of Pit-1 (PROP-1), one of the pituitary specific homeodomain transcription factors, is involved in the differentiation of the anterior pituitary cells (somatotrophs, lactotrophs, thyrotrophs, and gonadotrophs), and PROP-1 gene mutations may interfere with the development of these cells, resulting in CPHD. We performed molecular analyses of the PROP-1 gene in two siblings, born to consanguineous parents, who presented with short stature. The index patient, a boy, was initially diagnosed with constitutional growth delay based on familial short stature, low parental target height, normal GH secretion, and imaging of the pituitary gland. On follow-up, auxological data and pubertal delay prompted a thorough reevaluation, which documented GH, TSH, and gonadotropin deficiencies. Direct sequencing of the PROP-1 gene revealed a novel homozygous transition 296G-->A in exon 2 in the two affected siblings. The mutation substitutes a highly conserved arginine by a glutamine at codon 99 (R99Q) in the second helix of the DNA-binding domain of the PROP-1 protein. Compared with wild-type PROP-1, R99Q displays a significant decrease in DNA binding on a paired box response element (PRDQ9) and trans-activation of a luciferase reporter gene. The findings emphasize the importance of repeated evaluations and illustrate that patients with CPHD associated with PROP-1 mutations present with a phenotypic spectrum, suggesting that the consequences of distinct PROP-1 mutations may be diverse and/or that additional factors, such as modifier genes, may have an impact on their expressivity.