Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.

OBJECTIVE: Report a single-center 12-year experience in the fetal diagnosis of diencephalic-mesencephalic junction dysplasia (DMJD) to expand the phenotype with Magnetic resonance imaging (MRI)-based classification, evaluate genetic etiologies, and ascertain outcomes. METHODS: Retrospective medical record and imaging review of all fetal MRI exams with DMJD were performed at our institution. RESULTS: Thirty-three pregnancies with fetal MRI findings of DMJD at 24 (18-37) weeks gestational age were studied; 70% were referred for fetal hydrocephalus. Three fetal MRI patterns were recognized. Type A (butterfly/hypothalamus-midbrain union) was seen in two cases (6%), Type B (partial thalamus-midbrain union) in 22 fetuses (70%), and Type C (complete/near complete midbrain-thalamic continuity) in nine fetuses (24%). L1CAM mutations were identified in four cases, and biallelic VRK1 variants in another. Among 14 live-born cases, 11 survived infancy, and 10 underwent postnatal brain MRI which confirmed the fetal MRI diagnosis in all but one case. Development was delayed in all surviving infants, most with additional neurological sequelae. CONCLUSIONS: DMJD may be identified by prenatal MRI as early as 18 weeks gestation. We propose three distinct phenotypic forms of DMJD, Types A-C. Next-generation sequencing provides an underlying molecular diagnosis in some patients, but further studies on associated genetic diagnoses and clinical outcomes are indicated.

The key role of the pediatric radiologist in developing a multidisciplinary fetal center.

With the demand for fetal imaging and fetal care programs on the rise, the authors of this manuscript review the components of building a successful fetal imaging center. Creating an environment that engages a multidisciplinary team, utilizing a central coordinator to review clinical and psychosocial aspects of each patient, and ensuring ongoing research and quality control are essential components to the success of growing a program.

Team counseling in prenatal evaluation: the partnership of the radiologist and genetic counselor.

Fetal medicine programs within children's hospitals have been developed to ensure access to pediatric specialists across multiple disciplines. The cases that present to these programs are usually complex and require involvement of a multidisciplinary care team. Although some providers on the team limit their focus to their pediatric specialty when counseling patients, the radiologist and genetic counselor have a distinct perspective allowing them to take the larger picture into account in the evaluation of the fetus. As first responders, they come together to review images and identify which consultants are most appropriate to counsel the families, and they can help guide patient discussions. In this paper we demonstrate how the combined expertise of the genetic counselor and pediatric radiologist can facilitate more accurate diagnoses and guide the appropriate management of complex fetal anomalies.

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.

BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017. We analyzed prenatal findings and correlated them with maternal history, postnatal imaging, phenotype, genetics and outcome. RESULTS: We identified eight cases, all with prenatal US and six of eight with prenatal MRI between 18 weeks and 32 weeks of gestational age. Reasons for referral included midface hypoplasia in four cases; family history in one case; intrauterine growth restriction in one case; short long-bones, intrauterine growth restriction and multicystic kidney in one case; and multiple anomalies in one case. In six cases, postnatal radiographs were performed. In four cases, postnatal spine MRI imaging was performed. The diagnosis of chondrodysplasia punctata was suggested in prenatal reports in six of eight fetuses. Seven of eight fetuses had Binder phenotype with severe nasomaxillary hypoplasia. Limb length was mildly symmetrically short in four of eight cases and normal in four of eight fetuses. Two of eight fetuses had epiphyseal stippling identified prenatally by US; this was present postnatally in six neonates on radiographs. Hand and foot abnormalities of brachytelephalangy were not detected on the prenatal US or MRI but were present in six of eigth fetuses on postnatal radiographs or physical exam. Four of eight fetuses had prenatal spine irregularity on US from subtle stippling. Six of eight had spine stippling on postnatal radiographs. One fetus had cervicothoracic kyphosis on prenatal US and MRI, and this was postnatally present in one additional neonate. One case had prenatally suspected C1 spinal stenosis with possible cord compression, and this was confirmed postnatally by MRI. There was a maternal history of systemic lupus erythematosus in two and hyperemesis gravidarum in one. Outcomes included one termination and seven survivors. CONCLUSION: Chondrodysplasia punctata can be identified prenatally but findings are often subtle. The diagnosis should be considered when a fetus presents with a hypoplastic midface known as the Binder phenotype. Maternal history of lupus, or other autoimmune diseases or hyperemesis gravidarum can help support the diagnosis.

Male Prison Inmates With Gender Dysphoria: When Is Sex Reassignment Surgery Appropriate?

Gender dysphoria (GD), a feeling of persistent discomfort with one's biologic sex or assigned gender, is estimated to be more prevalent in male prison inmates than in nonincarcerated males; there may be 3000-4000 male inmates with GD in prisons in the United States. An increasing number of U.S. prison systems now offer gender dysphoric inmates diagnostic evaluation, psychotherapy, cross-sex hormone therapy, and opportunities, albeit limited, to enact their preferred gender role. Sex reassignment surgery (SRS), however, has not been offered to inmates except in response to litigation. In the first case of its kind, the California Department of Corrections and Rehabilitation recently agreed to provide SRS to an inmate and developed policy guidelines for its future provision. In other recent cases, U.S. courts have ruled that male inmates with GD are entitled to SRS when it is medically necessary. Although these decisions may facilitate the provision of SRS to inmates in the future, many U.S. prison systems will probably remain reluctant to offer SRS unless legally compelled to do so. In this review, we address the medical necessity of SRS for male inmates with GD. We also discuss eligibility criteria and the practical considerations involved in providing SRS to inmates. We conclude by offering recommendations for physicians, mental health professionals, and prison administrators, designed to facilitate provision of SRS to inmates with GD in a manner that provides humane treatment, maximizes the likelihood of successful outcomes, minimizes risk of regret, and generates data that can help inform future decisions.

Gender Dysphoria in Adults.

Gender dysphoria (GD), a term that denotes persistent discomfort with one's biologic sex or assigned gender, replaced the diagnosis of gender identity disorder in the Diagnostic and Statistical Manual of Mental Disorders in 2013. Subtypes of GD in adults, defined by sexual orientation and age of onset, have been described; these display different developmental trajectories and prognoses. Prevalence studies conclude that fewer than 1 in 10,000 adult natal males and 1 in 30,000 adult natal females experience GD, but such estimates vary widely. GD in adults is associated with an elevated prevalence of comorbid psychopathology, especially mood disorders, anxiety disorders, and suicidality. Causal mechanisms in GD are incompletely understood, but genetic, neurodevelopmental, and psychosocial factors probably all contribute. Treatment of GD in adults, although largely standardized, is likely to evolve in response to the increasing diversity of persons seeking treatment, demands for greater client autonomy, and improved understanding of the benefits and limitations of current treatment modalities.

Prenatal counseling tools for the pediatric radiologist as part of a multidisciplinary team.

Fetal abnormalities are present in 3-5% of all pregnancies, leading to increased anxiety and the need for important discussions between patients and their care providers. Regardless of the severity of the anomaly, receiving the information can be traumatic for the pregnant patient and her partner. Most physicians who aren't trained to provide prenatal counseling understandably feel uncomfortable with the uncertainty and complex issues that arise in such high-stress counseling sessions. Genetic counselors are specifically trained to counsel patients in the setting of a fetal abnormality; however additional input from pediatric radiologists and other pediatric specialists is invaluable to parents in these situations and such input is an essential part of a team approach to prenatal counseling. The goal of this article is to provide a basic approach to counseling in the prenatal setting for pediatric radiologists and other specialists.

Prenatal evaluation of atelencephaly.

Atelencephaly is a rare lethal congenital brain malformation characterized by underdevelopment of the prosencephalon and is often accompanied by the facial features seen in some cases of holoprosencephaly, such as cyclopia. We report a case of atelencephaly in the fetus with characteristic ultrasound findings. In addition, we report the findings on fetal MRI, which have not been previously described in the literature.

Fetal renal cystic disease and post-natal follow up-a single center experience.

Introduction: Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established. Aim of the work: We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease. Methods: Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared. Results: In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%). Conclusion: Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

Autogynephilia: an underappreciated paraphilia.

Autogynephilia is defined as a male's propensity to be sexually aroused by the thought of himself as a female. It is the paraphilia that is theorized to underlie transvestism and some forms of male-to-female (MtF) transsexualism. Autogynephilia encompasses sexual arousal with cross-dressing and cross-gender expression that does not involve women's clothing per se. The concept of autogynephilia defines a typology of MtF transsexualism and offers a theory of motivation for one type of MtF transsexualism. Autogynephilia resembles a sexual orientation in that it involves elements of idealization and attachment as well as erotic desire. Nearly 3% of men in Western countries may experience autogynephilia; its most severe manifestation, MtF transsexualism, is rare but increasing in prevalence. Some theorists and clinicians reject the transsexual typology and theory of motivation derived from autogynephilia; their objections suggest a need for additional research. The concept of autogynephilia can assist clinicians in understanding some otherwise puzzling manifestations of nonhomosexual MtF transsexualism. Autogynephilia exemplifies an unusual paraphilic category called 'erotic target identity inversions', in which men desire to impersonate or turn their bodies into facsimiles of the persons or things to which they are sexually attracted.

Sexual orientation versus age of onset as bases for typologies (subtypes) for gender identity disorder in adolescents and adults.

The most widely used and influential typologies for transsexualism and gender identity disorder (GID) in adolescents and adults employ either sexual orientation or age of onset of GID-related symptoms as bases for categorization. This review compares these two typological approaches, with the goal of determining which one should be employed for the diagnosis of GID in Adolescents or Adults (or its successor diagnosis) in the forthcoming revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Typologies based on sexual orientation and age of onset of GID-related symptoms are roughly comparable in ease and reliability of subtype assignment. Typologies based on sexual orientation, however, employ subtypes that are less ambiguous and better suited to objective confirmation and that offer more concise, comprehensive clinical description. Typologies based on sexual orientation are also superior in their ability to predict treatment-related outcomes and comorbid psychopathology and to facilitate research. Commonly expressed objections to typologies based on sexual orientation are unpersuasive when examined closely. The DSM should continue to employ subtypes based on sexual orientation for the diagnosis of GID in Adolescents or Adults or its successor diagnosis.

Societal individualism predicts prevalence of nonhomosexual orientation in male-to-female transsexualism.

There are two distinct subtypes of male-to-female (MtF) transsexuals: homosexual and nonhomosexual. The relative prevalence of these two subtypes varies dramatically between countries, but no explanation of this variability has yet been proposed. This study examined the hypothesis that the prevalence of nonhomosexual MtF transsexualism, relative to homosexual MtF transsexualism, would be higher in individualistic countries than in collectivistic countries. I analyzed data from 22 studies of MtF transsexualism, conducted in 16 countries, examining the association between percentage of nonhomosexual participants and Hofstede's (Culture's consequences: Comparing values, behaviors, institutions, and organizations across nations, 2001) Individualism Index (IDV). IDV accounted for 77% of observed variance in the percentage of nonhomosexual MtF participants (r = 0.88, p < .0001). Controlling for differences in national wealth and in Hofstede's other indices of societal values (Power Distance, Uncertainty Avoidance, and Masculinity) did not significantly change the ability of IDV to account for variance in the percentage of nonhomosexual participants. The factors that contribute to the observed association between societal individualism and the relative prevalence of nonhomosexual MtF transsexualism remain to be determined, but a greater tolerance within individualistic countries for socially disruptive gender transitions by nonhomosexual gender dysphoric men, and the availability within many collectivistic countries of socially approved transgender roles for pervasively feminine homosexual gender dysphoric men, are plausible contributors.

Anatomic autoandrophilia in an adult male.

Some men are sexually aroused by impersonating the individuals to whom they are sexually attracted, or by permanently changing their bodies to become facsimiles of such individuals. Blanchard (J Sex Marital Ther 17:235-251, 1991) suggested that these paraphilic sexual interests, along with fetishism, represented erotic target location errors, i.e., developmental errors in locating erotic targets in the environment. Because the desire to impersonate or become a facsimile of the kind of person to whom one is attracted can have significant implications for identity, Freund and Blanchard (Br J Psychiatry 162:558-563, 1993) coined the term erotic target identity inversion to describe this type of erotic target location error. The best-known examples of erotic target identity inversions occur in men who are sexually attracted to women and who are also sexually aroused by the idea of impersonating or becoming women; these paraphilic interests manifest as transvestic fetishism and as one type of male-to-female transsexualism. Analogous erotic target identity inversions have been described in men who are sexually attracted to children and to female amputees. In theory, erotic target identity inversions should also occur in men who are sexually attracted to men. There have been no unambiguous descriptions, however, of men who are sexually attracted to men and also sexually aroused by the idea of changing their bodies to become more sexually attractive men. This report describes such a man, whose paraphilic interest would appropriately be called anatomic autoandrophilia. The demonstration that anatomic autoandrophilia exists in men is consistent with the theory that erotic target location errors constitute an independent paraphilic dimension.

Erotic target location errors: an underappreciated paraphilic dimension.

Based on studies of heterosexual male fetishists, transvestites, and transsexuals, Blanchard (1991) proposed the existence of a hitherto unrecognized paraphilic dimension, erotic target location errors (ETLEs), involving the erroneous location of erotic targets in the environment. ETLEs can involve preferential attention to a peripheral or inessential part of an erotic target, manifesting as fetishism, or mislocation of an erotic target in one's own body, manifesting as the desire to impersonate or become a facsimile of the erotic target (e.g., transvestism or transsexualism). Despite its potential clinical and heuristic value, the concept that ETLEs define a paraphilic dimension is underappreciated. This review summarizes the studies leading to the concept of ETLEs and describes how ETLEs are believed to manifest in men whose preferred erotic targets are women, children, men, amputees, plush animals, and real animals. This review also describes ETLEs in women; discusses possible etiologies of ETLEs; considers the implications of the ETLE concept for psychoanalytic theories of transvestism and male-to-female transsexualism, as well as for the forthcoming revision of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; suggests reasons why the concept of ETLEs has been underappreciated; and describes what might result if the concept were more widely appreciated.

High-intensity, sport-specific cardiac rehabilitation training of a 22-year-old competitive cyclist after spontaneous coronary artery dissection.

A 22-year-old man with spontaneous coronary artery dissection wanted to assess the feasibility of returning to competitive cycling. He was referred to the cardiac rehabilitation (CR) program at Baylor Hamilton Heart and Vascular Hospital where staff designed a high-intensity, sport-specific training program that simulated the movements and forces associated with his goal activity. The program was symptom limited and enabled the patient to train earlier and at a higher intensity than is typically allowed in conventional CR programs. Daily exercise training was customized to match the physical demands of competitive cycling by using a road bike, an indoor bike power trainer, and an interactive indoor-cycling software program. This case illustrates how specialized CR training, tailored to a patient's specific goals, can aid in the return to vigorous physical activity. He completed the high-intensity exercise training program without adverse signs or symptoms.