Publications by authors named "Janet Y Lee"

Purpose: The nonbinary and genderqueer (NBGQ) youth population is growing, yet scant research focuses on this distinct group. We aim to gain a deeper understanding of desired gender-affirming care and interventions pursued by NBGQ youth.

Methods: A retrospective chart review of NBGQ patients seen at the University of California, San Francisco Child and Adolescent Gender Center from January 1, 2009, to December 31, 2020, was performed.

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Objectives: Guidelines for monitoring of medications frequently used in the gender-affirming care of transgender and gender-diverse (TGD) adolescents are based on studies in adults or other medical conditions. In this study, we aimed to investigate commonly screened laboratory measurements in TGD adolescents receiving gender-affirming hormone therapy (GAHT).

Methods: TGD adolescents were recruited from 4 study sites in the United States before beginning GAHT.

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Transgender and gender-diverse (TGD) youth may pursue gender-affirming medical therapy in the form of gonadotropin-releasing hormone analogues (GnRHa), or "puberty blockers," if pubertal changes result in the development or worsening of gender dysphoria. GnRHa monotherapy can allow TGD youth to explore gender without the distress of unwanted secondary sexual characteristics. However, given the potential effects of GnRHa on growth, skeletal development, neurodevelopment, fertility, and future surgical outcomes, it is critical to accurately assess pubertal status to facilitate fully informed conversations with TGD youth and families about risks, benefits, and unknown consequences of GnRHa monotherapy.

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Purpose Of Review: The purpose of this review is to summarize the scientific evidence on bone health in transgender and gender diverse (TGD) youth.

Recent Findings: Gender-affirming medical therapies may be introduced during a key window of skeletal development in TGD adolescents. Before treatment, low bone density for age is more prevalent than expected in TGD youth.

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Increasing numbers of transgender and gender-diverse (TGD) youth, from early puberty through late adolescence, are seeking medical services to bring their physical sex characteristics into alignment with their gender identity-their inner sense of self as male or female or elsewhere on the gender spectrum. Numerous studies, primarily of short- and medium-term duration (up to 6 years), demonstrate the clearly beneficial-even lifesaving-mental health impact of gender-affirming medical care in TGD youth. However, there are significant gaps in knowledge and challenges to such care.

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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.

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Purpose: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by progressive musculoskeletal pain, fatigue, proximal muscle weakness, and multiple fractures, leading to long-term disability. Misdiagnosis and delayed diagnosis are common because of the nonspecific symptoms, and several years may elapse before patients receive an accurate diagnosis and appropriate treatment.

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Gastrostomy tubes (G-tubes) and Nissen fundoplication are common surgical interventions for feeding difficulties and gastroesophageal reflux disease in children. A potential yet often missed, complication of these procedures is dumping syndrome. We present 3 pediatric patients with postprandial hypoglycemia due to late dumping syndrome after gastric surgeries.

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Article Synopsis
  • A study was conducted to assess bone mineral density (BMD) in early-pubertal transgender youth starting GnRH agonists, which suppress puberty and may affect bone health.
  • Results showed that early-pubertal transgender males (DMAB) and females (DFAB) had lower BMD Z-scores compared to their respective reference standards, indicating potential bone health concerns.
  • The study suggests that low BMD might be linked to inadequate calcium intake and reduced physical activity, highlighting the importance of monitoring bone health and nutrition in transgender youth undergoing gender-affirming therapy.*
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Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other conditions causes significant morbidity and mortality, FHH generally follows a benign course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the mistaken diagnosis of primary hyperparathyroidism (PHPT), given the significant overlap of biochemical features.

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In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting. Recent understanding of the mechanisms of disease and role of fibroblast growth factor 23 (FGF-23) in XLH and other hypophosphatemic disorders have opened new potential therapeutic avenues.

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Persistent down-regulation in the expression of the hyperpolarization-activated HCN1 cation channel, a key determinant of intrinsic neuronal excitability, has been observed in febrile seizure, temporal lobe epilepsy, and generalized epilepsy animal models, as well as in patients with epilepsy. However, the role and importance of HCN1 down-regulation for seizure activity is unclear. To address this question we determined the susceptibility of mice with either a general or forebrain-restricted deletion of HCN1 to limbic seizure induction by amygdala kindling or pilocarpine administration.

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