Dealing with female sexuality: training, attitude, and practice of obstetrics and gynecology residents from a developing country.

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.

Brazilian residents' attitude and practice toward sexual health issues in pregnant patients.

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.

Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended.

Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.

Congenital hyperinsulinism of infancy (CHI) is the most common cause of hypoglycemia in newborns and infants. Several molecular mechanisms are involved in the development of CHI, but the most common genetic defects are inactivating mutations of the ABCC8 or KCNJ11 genes. The classical treatment for CHI has been pancreatectomy that eventually leads to diabetes.

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

Unlabelled: Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in Neuroendocrinology services. The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX3, PIT1, and PROP1, with normally placed posterior pituitary (NPPP); HESX1 mutations are associated with both.

Objective: To identify mutations in PTF genes in patients with idiopathic hypopituitarism followed in our service, based on the presence or absence of EPP on sellar MRI.

Central precocious puberty associated with pituitary duplication and midline defects.

Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or result from congenital or acquired CNS lesions. We describe a 7.

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

Background: Combined pituitary hormone deficiency (CPHD) corresponds to impaired production of growth hormone (GH) and other anterior pituitary hormones. The genetic form of CPHD may result from mutations in pituitary transcription factor genes, and PROP1 is the most commonly mutated gene in these cases. Patients with PROP1 mutations may have variable CPHD phenotypes but, because they are usually treated in childhood, the wide phenotypic variability caused by these mutations may not be thoroughly appreciated.

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

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.

Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.

We describe a 23-yr old woman with congenital combined pituitary hormone deficiency (CPHD) diagnosed at 10 years of age and a large sellar mass discovered at the age of 19 years, when her first pituitary MRI was performed. The mass (height: 13 mm) extended to the suprasellar region, close to the optic chiasm, showed signal hyperintensity in T1- and hypointensity in T2-weighted images, with no enhancement after gadolinium injection. Although these MRI features were suggestive of Rathke's cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.

[Glycoprotein-secreting pituitary adenomas: pathogenesis, diagnosis and treatment].

The glycoprotein-secreting pituitary adenomas comprise two distinctive clinical and pathological entities, the gonadotroph and the thyrotroph cell pituitary adenomas. Although they can be grouped together for producing hormones and/or subunits that are glycoproteins, these tumors originate from distinctive cell types (gonadotrophes and thyrotrophes) that are only remotely related. Gonadotroph cell adenomas are among the commonest types of pituitary adenomas, corresponding to the majority of the so-called "nonfunctioning" or clinically silent adenomas, while thyrotroph cell adenomas are extremely rare and usually present with hyperthyroidism due to inappropriate TSH secretion.

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

Objective: The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive.

Methods: AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing.

Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred.

Objective: Abnormal corticosteroid-binding globulin (CBG) is an extremely rare condition and only three mutations have been described in four families. The molecular basis of an abnormal CBG in a Brazilian family was studied and correlations between genotype and serum cortisol, cortisol binding capacity (CBC) and CBG levels were determined.

Subjects: All 10 family members, comprising three generations, and nine healthy volunteers were studied.

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.

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.

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Objective: To investigate whether patients with thyrotoxic hypokalaemic periodic paralysis (THPP) have the same molecular defect in the calcium channel gene described in familial hypokalaemic periodic paralysis (FHPP), as the symptoms of both diseases are comparable, we analysed, in patients with THPP, the presence of mutations R528H, R1239H and R1239G on the S4 voltage-sensing transmembrane segment of the alpha1 subunit of the calcium channel gene (Cav1.1).

Design And Patients: Genomic DNA was extracted from peripheral blood from 14 patients with THPP, 13 sporadic cases and one with a family history.