EDUCATION

Undergraduate Degree

BS, Biology
  • Yale University , 1993 , New Haven , CT

Graduate Degree

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

Philosophy of Care

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.

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.

CERTIFICATIONS

  • American Board of Pediatrics, Pediatric Endocrinology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Timing of Pubertal Onset in Girls and Boys With Constitutional Delay. J Clin Endocrinol Metab. 2021 Aug 18; 106(9):e3693-e3703. View abstract
  2. 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 Jun; 29(6):998-1007. View abstract
  3. Psychosocial Functioning Among Children With and Without Differences of Sex Development. J Pediatr Psychol. 2021 01 20; 46(1):69-79. View abstract
  4. An Unusual Cause of Secondary Amenorrhea in an Adolescent: Expanding the Differential. J Endocr Soc. 2020 Dec 01; 4(12):bvaa159. View abstract
  5. Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD. J Pediatr Psychol. 2020 10 01; 45(9):1053-1062. View abstract
  6. 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
  7. 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
  8. Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8). View abstract
  9. 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
  10. 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
  11. 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
  12. PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY. Endocr Pract. 2020 Mar; 26(3):267-284. View abstract
  13. Creating the Trans Youth Research Network: A Collaborative Research Endeavor. Transgend Health. 2019; 4(1):304-312. View abstract
  14. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development. J Urol. 2019 11; 202(5):1046-1051. View abstract
  15. 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
  16. 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
  17. 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
  18. 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
  19. Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38. View abstract
  20. 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
  21. TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. Endocr Pract. 2019 Aug; 25(8):779-786. View abstract
  22. The Utility of Potassium Monitoring in Gender-Diverse Adolescents Taking Spironolactone. J Endocr Soc. 2019 May 01; 3(5):1031-1038. View abstract
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305. View abstract
  29. Genetics of pubertal timing. Curr Opin Pediatr. 2018 08; 30(4):532-540. View abstract
  30. 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
  31. Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8). View abstract
  32. 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
  33. The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table. Behav Genet. 2018 03; 48(2):95-108. View abstract
  34. Case 3-2018: A 5-Month-Old Boy with Hypoglycemia. N Engl J Med. 2018 Jan 25; 378(4):381-389. View abstract
  35. 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
  36. Adult Consequences of Self-Limited Delayed Puberty. Pediatrics. 2017 Jun; 139(6). View abstract
  37. Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 01; 27(1):1-6. View abstract
  38. 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
  39. Prospective assessment of cosmesis before and after genital surgery. J Pediatr Urol. 2017 Feb; 13(1):28.e1-28.e6. View abstract
  40. 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
  41. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. View abstract
  42. Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25. View abstract
  43. Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9. View abstract
  44. Growth morbidity in patients with cloacal exstrophy: a 42-year experience. J Pediatr Surg. 2016 Jun; 51(6):1017-21. View abstract
  45. Fertility Issues for Patients with Hypogonadotropic Causes of Delayed Puberty. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):821-34. View abstract
  46. 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
  47. 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
  48. 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
  49. 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
  50. Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94. View abstract
  51. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. View abstract
  52. 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
  53. Effects of kisspeptin on hormone secretion in humans. Adv Exp Med Biol. 2013; 784:89-112. View abstract
  54. 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
  55. 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
  56. 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
  57. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44. View abstract
  58. 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
  59. 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
  60. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15. View abstract
  61. 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
  62. 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
  63. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23. View abstract
  64. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8. View abstract
  65. Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8. View abstract
  66. 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
  67. 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
  68. Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36. View abstract