Multiple Fractures in an Infant With Hepatoblastoma and Beckwith-Wiedemann Syndrome.

Children with hepatoblastoma have an increased incidence of fractures, but data are limited. Previous reports document an average of 4 fractures per child with hepatoblastoma. We present a severe case of a premature 4-month-old with multiple fractures in the setting of Beckwith-Wiedemann syndrome and hepatoblastoma. Although prematurity is a known risk for metabolic bone disease, it did not entirely explain the severity. Our patient underwent chemotherapy and surgical resection of his hepatoblastoma. Once deemed stable, he received a dose of zoledronic acid (ZA). One month post treatment with ZA, a skeletal survey revealed healing of the rib and femoral fractures and no new fractures. Five months post ZA, the skeletal survey revealed no new fractures and motor development was appropriate. An extensive search revealed scant literature on the rate or cause of pathologic fractures in patients with newly diagnosed hepatoblastoma. A better understanding of fracture risk in this population may guide prevention strategies, screening, and treatment. In our case, prematurity and substantial chronic illness may have compounded the known fracture risk associated with hepatoblastoma and may provide insight into the pathophysiology and prevention of fractures in this setting.

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.

Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha (HNF4A) account for approximately 5% of cases and are inherited in an autosomal dominant fashion or arise as de novo mutations. This case describes a unique presentation of parental gonadal, or germline, mosaicism as the suspected inheritance pattern for siblings with congenital hyperinsulinism caused by HNF4A mutations. Two siblings presented with hypoglycemia in the first hours of life and were subsequently confirmed to have hyperinsulinism. In each patient, glycemic control was achieved at relatively low doses of diazoxide. Both siblings tested positive for the same HNF4A mutation, whereas the parents tested negative for HNF4A mutations. Gonadal, or germline, mosaicism became the presumed leading diagnosis, given 2 unaffected parents with 2 children with congenital hyperinsulinism. The older sibling demonstrated additional clinical features of liver disease and renal Fanconi syndrome, both of which are associated with HNF4A mutations. Genetic testing plays an important role in the diagnosis and management of congenital hyperinsulinism. HNF4A mutations may arise by a range of mechanisms, including gonadal, or germline, mosaicism. HNF4A mutations have phenotypic variance that may affect multiple organ systems at any age.

Providing Gender-Affirmative Care During the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic Era: Experiences and Perspectives from Pediatric Endocrinologists in the United States.

Transgender and gender diverse (TGD) youth are at risk of worsened health disparities during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Health care delivery by pediatric endocrinologists, including rapid implementation of telemedicine services, during the pandemic has not been documented. The Pediatric Endocrine Society's Transgender Health Special Interest Group met virtually to survey practice patterns during the SARS-CoV-2 pandemic. The majority of pediatric endocrinologists continued to provide most aspects of medical transition; however, we also identified several barriers to care. Overall, the survey results demonstrated that telemedicine can be utilized as an effective way to provide gender-affirming medical care to TGD youth.

Statement on gender-affirmative approach to care from the pediatric endocrine society special interest group on transgender health.

PURPOSE OF REVIEW: The purpose of this Position Statement is to emphasize the importance of an affirmative approach to the health care of transgender individuals, as well as to improve the understanding of the rights of transgender youth. RECENT FINDINGS: Transgender youth have optimal outcomes when affirmed in their gender identity, through support by their families and their environment, as well as appropriate mental health and medical care. SUMMARY: The Pediatric Endocrine Society Special Interest Group on Transgender Health joins other academic societies involved in the care of children and adolescents in supporting policies that promote a safe and accepting environment for gender nonconforming/transgender youth, as well as adequate mental health and medical care. This document provides a summary of relevant definitions, information and current literature on which the medical management and affirmative approach to care of transgender youth are based.

Subcutaneous Injection of Testosterone Is an Effective and Preferred Alternative to Intramuscular Injection: Demonstration in Female-to-Male Transgender Patients.

Context: Testosterone (T) is commonly administered intramuscularly to treat hypogonadal males and female-to-male (FTM) transgender patients. However, these injections can involve significant discomfort and may require arrangements for administration by others. Objective: We assessed whether T could be administered effectively and safely subcutaneously as an alternative to intramuscular (IM) injections. Design: Retrospective cohort study. Setting: Outpatient reproductive endocrinology clinic at an academic medical center. Patients: Sixty-three FTM transgender patients aged >18 years electing to receive subcutaneous (SC) T therapy for sex transition were included. Fifty-three patients were premenopausal. Intervention: Patients were administered T cypionate or enanthate weekly at an initial dose of 50 mg. Dose was adjusted if needed to achieve serum total T levels within the normal male range. Main Outcome Measurements: Serum concentrations of free and total T and total estradiol (E2), masculinization, and surveillance for reactions at injection sites. Results: Serum T levels within the normal male range were achieved in all 63 patients with doses of 50 to 150 mg (median, 75/80 mg). Therapy was effective across a wide range of body mass index (19.0 to 49.9 kg/m2). Minor and transient local reactions were reported in 9 out of 63 patients. Among 53 premenopausal patients, 51 achieved amenorrhea and 35 achieved serum E2 concentrations <50 pg/mL. Twenty-two patients were originally receiving IM and switched to SC therapy. All 22 had a mild (n = 2) or marked (n = 20) preference for SC injections; none preferred IM injections. Conclusions: Our observations indicate that SC T injections are an effective, safe, and well-accepted alternative to IM T injections.

Gender Incongruity in Children With and Without Disorders of Sexual Differentiation.

Access to the Internet and recent major media coverage has contributed to an increased societal awareness of the variations of gender identity. There are two sets of clinical guidelines primarily used by practitioners who care for transgender adolescents and adults. Although these guidelines have been tremendously helpful for the management of transgender adolescents, those working in the field recognize the limitations of firm recommendations with a population that is so heterogeneous. This article will summarize current recommendations for the management of children and adolescents with gender incongruence and suggest ways in which we might vary from the current guidelines.