Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study.

OBJECTIVE: Serum Anti-Mullerian Hormone (AMH) concentrations have been proposed as a marker of spontaneous puberty and future fertility in Turner syndrome (TS). Gonadotropins during minipuberty may also provide a clue to ovarian function but there is insufficient data to inform utility in the routine clinical management of TS. Our objective was to describe the distribution of AMH in a cross-sectional cohort of patients in a TS specialty clinic, and correlate with spontaneous puberty and karyotype, as well as gonadotropins during the minipuberty of infancy in a smaller subset of patients aged 2-9 months. DESIGN: Retrospective chart review of patients seen in the TS clinic at Children's National Hospital from 1/1/2019 to 8/24/2022, to assess AMH and correlate with karyotype and spontaneous puberty. RESULTS: Among 114 patients (median age 9.6 year, 0.08-22 year), AMH values were detectable in only (40/104) 38%, and higher mean AMH (2.7 ± 0.95 ng/mL) was seen in mosaic 45,X/46,XX karyotype compared to 45,X (0.03 ± 0.14 ng/mL) (p < .001), and structurally abnormal-X karyotype (0.11 ± 0.5) (p = .0003). Mean AMH was higher (1.4 ± 1.6 ng/mL) among those with spontaneous menarche compared with spontaneous thelarche but no menarche. AMH was detectable in 2/10 during minipuberty in those with the lowest luteinizing hormone (LH). CONCLUSIONS: Our institutional data reflects a diverse cohort of patients seen in a TS specialty clinic in the United States, showing correlation of AMH with karyotype and spontaneous menarche, as well as description of gonadotropins during minipuberty highlighting their clinical relevance. Studies in larger, prospective longitudinal cohorts will help determine their predictive value and role in the care of TS.

Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center.

OBJECTIVES: Severe 25-hydroxyvitamin D (25(OH)D) deficiency can result in life-threatening presentations due to hypocalcemia leading to seizures and cardiac arrhythmias. vitamin D deficiency is a common cause of hypocalcemia and rickets in children; however, there are no recent studies on the burden of inpatient admissions in the United States. Our study aims to describe the clinical characteristics and risk factors of inpatient admissions due to severe hypocalcemia and 25(OH)D deficiency at a freestanding academic children's hospital. METHODS: A descriptive retrospective chart review was completed on all inpatient admissions from 2016 to 2021 for children 0-18 years of age with corrected calcium <8 mg/dL and 25(OH)D <10 ng/mL during admission. RESULTS: Thirty-eight patients met the inclusion criteria (74 % Black/African American). Neurological signs described in 49 %, bone abnormalities in 17 % and EKG abnormalities in 42 % of the patients. The mean calcium serum level was 6.0 mmol/L (range 5.0-7.9 mmol/L), the mean iCa 0.77 mmol/L (range 0.54-0.99 mmol/L). The mean level of 25(OH)D was 5.5 ng/mL (range 2.1-9.7 ng/mL). The median length of stay was 4.5 (range 1-59 days). CONCLUSIONS: In this retrospective observational study, risk factors identified: (1) Black/African American race (2) age less than two years (3) lack of supplementation of vitamin D and (4) dietary restrictions. Inpatient admissions are preventable through the implementation of education at the community and healthcare levels.

New-Onset Primary Adrenal Insufficiency and Autoimmune Hypothyroidism in a Pediatric Patient Presenting with MIS-C.

INTRODUCTION: There is emerging speculation that the inflammatory state associated with SARS-CoV-2 infection may trigger autoimmune conditions, but no causal link is established. There are reports of autoimmune thyroiditis and adrenal insufficiency in adults post-COVID-19. We describe the first pediatric report of adrenal insufficiency and autoimmune hypothyroidism after COVID-19. CASE PRESENTATION: A 14-year-old previously healthy girl, with vitiligo, presented in shock following 1 week of fever, lethargy, diarrhea, and vomiting. Three weeks prior, she had congestion and fatigue and known familial exposure for COVID-19. Labs were remarkable for sodium 129 mmol/L, K 4.3 mmol/L, creatinine 2.9 mg/dL, hemoglobin 8.3 g/dL, and positive COVID-19 PCR and SARS-CoV-2 IgG. She was resuscitated with normal saline and required pressor support. EKG showed abnormal repolarization presumed secondary to myocarditis. She met the criteria for multisystem inflammatory syndrome in children (MIS-C), received intravenous immune globulin and IL-1R antagonist and was admitted for intensive care. Persistent hypotension despite improved inflammatory markers and undetectable cortisol led to initiation of hydrocortisone. She was then able to rapidly wean off pressors and hydrocortisone within 48 h. Thereafter, tests undertaken for persistent bradycardia confirmed autoimmune hypothyroidism with TSH 131 µU/mL, free T4 0.85 ng/dL, and positive thyroid autoantibodies. Basal and stimulated cortisol were <1 µg/dL on a standard 250 µg cosyntropin stimulation test, with baseline ACTH >1,250 pg/mL confirming primary adrenal insufficiency. Treatment was initiated with hydrocortisone, levothyroxine, and fludrocortisone. Adrenal sonogram did not reveal any hemorrhage and anti-adrenal antibody titers were positive. The family retrospectively reported oligomenorrhea, increased salt craving in the months prior, and a family history of autoimmune thyroiditis. The cytokine panel was notably different from other cases of MIS-C. CONCLUSION: This is the first pediatric report, to our knowledge, of primary adrenal insufficiency and hypothyroidism following COVID-19, leading to a unique presentation of autoimmune polyglandular syndrome type 2. The initial presentation was attributed to MIS-C, but the subsequent clinical course suggests the possibility of adrenal crisis. It remains unknown if COVID-19 had a causal relationship in triggering the autoimmune adrenal insufficiency and hypothyroidism.