Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Undergraduate School

BS, Biology

Yale University

1993, New Haven, CT

Graduate School

Phd, Genetics

University of California, San Francisco

2000, San Francisco, CA

Medical School

University of California, San Francisco

2002, San Francisco, CA

Internship

Pediatrics

University of California, San Francisco

2003, San Francisco, CA

Residency

Pediatrics

University of California, San Francisco

2005, San Francisco, CA

Fellowship

Pediatric Endocrinology

Boston Children's Hospital

2008, Boston, MA

Certifications

  • American Board of Pediatrics (Endocrinology)

Professional History

I am a pediatric endocrinologist and translational researcher with an interest in the reproductive endocrine system. In both my clinical practice and my research, I focus on how the reproductive endocrine system develops and functions before birth, in infancy, at puberty, and through adolescence and adulthood. I treat and study conditions that interfere with the function of the reproductive endocrine system; these conditions can cause differences of sex development and development of the genitals, precocious or delayed puberty, and/or issues with fertility. My research focuses on the causes of these conditions, the impact of these conditions on patients, developing potential new diagnostic tests, and evaluating treatments for these conditions.

Publications

  1. Age at Menarche and Coronary Artery Disease Risk: Divergent Associations with Different Sources of Variation. J Clin Endocrinol Metab. 2025 Mar 10. View Abstract

  2. Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2024 Dec 18; 110(1):e61-e67. View Abstract

  3. Age at Menarche and Coronary Artery Disease Risk: Divergent Associations with Different Sources of Variation. medRxiv. 2024 Dec 17. View Abstract

  4. Independent effects of testosterone, estradiol, and sex chromosomes on gene expression in immune cells of trans- and cisgender individuals. bioRxiv. 2024 Oct 09. View Abstract

  5. Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2024 Jan 18; 109(2):380-388. View Abstract

  6. Psychosocial Functioning in Transgender Youth after 2 Years of Hormones. N Engl J Med. 2023 01 19; 388(3):240-250. View Abstract

  7. Approaches to Identify Factors Associated with Pubertal Timing in Self-Limited Delayed Puberty. Horm Res Paediatr. 2023; 96(3):267-277. View Abstract

  8. Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development. J Pediatr Adolesc Gynecol. 2022 Dec; 35(6):638-646. View Abstract

  9. Stigma, Intrusiveness, and Distress in Parents of Children with a Disorder/Difference of Sex Development. J Dev Behav Pediatr. 2022 09 01; 43(7):e473-e482. View Abstract

  10. Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2022 03 24; 107(4):e1577-e1587. View Abstract

  11. Surgical experiences in adolescents and young adults with differences of sex development: A qualitative examination. J Pediatr Urol. 2022 06; 18(3):353.e1-353.e10. View Abstract

  12. The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR. Pediatr Nephrol. 2022 09; 37(9):2141-2150. View Abstract

  13. Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH. J Pediatr Urol. 2022 02; 18(1):27-33. View Abstract

  14. Lipoprotein subtypes after testosterone therapy in transmasculine adolescents. J Clin Lipidol. 2021 Nov-Dec; 15(6):840-844. View Abstract

  15. Timing of Pubertal Onset in Girls and Boys With Constitutional Delay. J Clin Endocrinol Metab. 2021 08 18; 106(9):e3693-e3703. View Abstract

  16. A Comparison of Demographic and Psychosocial Characteristics Between Transgender Youth Enrolling Versus Not Enrolling in a Multisite Study. Transgend Health. 2021 Aug; 6(4):229-234. View Abstract

  17. Growth in Transgender/Gender-Diverse Youth in the First Year of Treatment With Gonadotropin-Releasing Hormone Agonists. J Adolesc Health. 2022 01; 70(1):108-113. View Abstract

  18. Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model. J Pediatr Psychol. 2021 06 03; 46(5):588-598. View Abstract

  19. Association of High-Density Lipoprotein Cholesterol With Sex Steroid Treatment in Transgender and Gender-Diverse Youth. JAMA Pediatr. 2021 05 01; 175(5):520-521. View Abstract

  20. Histrelin Implants for Suppression of Puberty in Youth with Gender Dysphoria: A Comparison of 50 mcg/Day (Vantas) and 65 mcg/Day (SupprelinLA). Transgend Health. 2021 Feb; 6(1):36-42. View Abstract

  21. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. View Abstract

  22. Psychosocial Functioning Among Children With and Without Differences of Sex Development. J Pediatr Psychol. 2021 01 20; 46(1):69-79. View Abstract

  23. Fertility Discussions: Perspectives of Adolescents and Young Adults With Differences of Sex Development. Clin Pract Pediatr Psychol. 2021 Dec; 9(4):372-383. View Abstract

  24. An Unusual Cause of Secondary Amenorrhea in an Adolescent: Expanding the Differential. J Endocr Soc. 2020 Dec 01; 4(12):bvaa159. View Abstract

  25. Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD. J Pediatr Psychol. 2020 10 01; 45(9):1053-1062. View Abstract

  26. Psychosocial Characteristics of Transgender Youth Seeking Gender-Affirming Medical Treatment: Baseline Findings From the Trans Youth Care Study. J Adolesc Health. 2021 06; 68(6):1104-1111. View Abstract

  27. TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. Hum Mol Genet. 2020 08 11; 29(14):2435-2450. View Abstract

  28. Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8). View Abstract

  29. Low Bone Mineral Density in Early Pubertal Transgender/Gender Diverse Youth: Findings From the Trans Youth Care Study. J Endocr Soc. 2020 Sep 01; 4(9):bvaa065. View Abstract

  30. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study. J Pediatr Urol. 2020 Oct; 16(5):568-575. View Abstract

  31. Physiological and Metabolic Characteristics of a Cohort of Transgender and Gender-Diverse Youth in the United States. J Adolesc Health. 2020 09; 67(3):376-383. View Abstract

  32. PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY. Endocr Pract. 2020 Mar; 26(3):267-284. View Abstract

  33. Creating the Trans Youth Research Network: A Collaborative Research Endeavor. Transgend Health. 2019; 4(1):304-312. View Abstract

  34. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development. J Urol. 2019 11; 202(5):1046-1051. View Abstract

  35. Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. J Clin Endocrinol Metab. 2019 10 01; 104(10):4304-4318. View Abstract

  36. Effects of the Timing of Sex-Steroid Exposure in Adolescence on Adult Health Outcomes. J Clin Endocrinol Metab. 2019 10 01; 104(10):4578-4586. View Abstract

  37. Response to commentary on 'Parent perceptions of psychosocial care for children with differences of sex development'. J Pediatr Urol. 2019 10; 15(5):524-525. View Abstract

  38. Impact of Early Medical Treatment for Transgender Youth: Protocol for the Longitudinal, Observational Trans Youth Care Study. JMIR Res Protoc. 2019 Jul 09; 8(7):e14434. View Abstract

  39. Parent perceptions of psychosocial care for children with differences of sex development. J Pediatr Urol. 2019 Oct; 15(5):522.e1-522.e8. View Abstract

  40. Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38. View Abstract

  41. Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development. Arch Sex Behav. 2019 07; 48(5):1617-1624. View Abstract

  42. TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. Endocr Pract. 2019 Aug; 25(8):779-786. View Abstract

  43. The Utility of Potassium Monitoring in Gender-Diverse Adolescents Taking Spironolactone. J Endocr Soc. 2019 May 01; 3(5):1031-1038. View Abstract

  44. Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):49-53. View Abstract

  45. Genetic evaluation of disorders of sex development: current practice and novel gene discovery. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):54-59. View Abstract

  46. Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia. Horm Res Paediatr. 2018; 90(5):308-313. View Abstract

  47. Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing. J Endocr Soc. 2019 Jan 01; 3(1):264-272. View Abstract

  48. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018 10 04; 103(4):522-534. View Abstract

  49. Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305. View Abstract

  50. Genetics of pubertal timing. Curr Opin Pediatr. 2018 08; 30(4):532-540. View Abstract

  51. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences. J Pediatr Urol. 2018 10; 14(5):416.e1-416.e5. View Abstract

  52. Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8). View Abstract

  53. Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. J Clin Endocrinol Metab. 2018 04 01; 103(4):1273-1276. View Abstract

  54. The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table. Behav Genet. 2018 03; 48(2):95-108. View Abstract

  55. Case 3-2018: A 5-Month-Old Boy with Hypoglycemia. N Engl J Med. 2018 Jan 25; 378(4):381-389. View Abstract

  56. Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion. J Clin Endocrinol Metab. 2017 06 01; 102(6):2091-2099. View Abstract

  57. Adult Consequences of Self-Limited Delayed Puberty. Pediatrics. 2017 Jun; 139(6). View Abstract

  58. Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 01; 27(1):1-6. View Abstract

  59. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Horm Res Paediatr. 2017; 87(3):191-195. View Abstract

  60. Prospective assessment of cosmesis before and after genital surgery. J Pediatr Urol. 2017 Feb; 13(1):28.e1-28.e6. View Abstract

  61. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Horm Res Paediatr. 2017; 87(4):264-270. View Abstract

  62. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. View Abstract

  63. Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25. View Abstract

  64. Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9. View Abstract

  65. Growth morbidity in patients with cloacal exstrophy: a 42-year experience. J Pediatr Surg. 2016 Jun; 51(6):1017-21. View Abstract

  66. Fertility Issues for Patients with Hypogonadotropic Causes of Delayed Puberty. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):821-34. View Abstract

  67. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54. View Abstract

  68. Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology. 2015 Apr; 156(4):1386-97. View Abstract

  69. Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2762-71. View Abstract

  70. Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor. Endocrinology. 2014 Aug; 155(8):3065-78. View Abstract

  71. Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94. View Abstract

  72. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. View Abstract

  73. LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats. J Chromatogr B Analyt Technol Biomed Life Sci. 2013 May 01; 926:1-8. View Abstract

  74. Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70. View Abstract

  75. Effects of kisspeptin on hormone secretion in humans. Adv Exp Med Biol. 2013; 784:89-112. View Abstract

  76. Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle. J Clin Endocrinol Metab. 2012 Aug; 97(8):E1458-67. View Abstract

  77. Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508. View Abstract

  78. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44. View Abstract

  79. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81. View Abstract

  80. A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. Mol Cell Endocrinol. 2011 Oct 22; 346(1-2):51-6. View Abstract

  81. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15. View Abstract

  82. Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta). Horm Metab Res. 2011 Feb; 43(2):81-5. View Abstract

  83. Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Horm Res Paediatr. 2010; 73(5):312-9. View Abstract

  84. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23. View Abstract

  85. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8. View Abstract

  86. Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8. View Abstract

  87. Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. J Clin Neurosci. 2008 Aug; 15(8):891-4. View Abstract

  88. Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. Pediatr Diabetes. 2007 Aug; 8(4):235-8. View Abstract

  89. Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36. View Abstract

I pursued training in both medicine and scientific research to combine my love of biology with my desire to help others. My goal as a physician is to give patients and families the information and guidance they need to make the best decisions for themselves. My goal as a scientist is to study patients with reproductive endocrine conditions to answer both basic questions about how the reproductive endocrine system works and how puberty starts, and practical questions that can have a direct impact on patient care.

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