Objectives Thyroid storm (TS) is an uncommon but severe manifestation of hyperthyroidism and an endocrine emergency, as it is fatal if it goes unrecognized. In pediatrics, the current literature is limited to case reports and case series. Current knowledge is extrapolated from adult data. This systematic review aims to present the epidemiology, most common etiologies, clinical presentation, and most accepted standard of care of TS in children. We aim to raise awareness of hyperthyroidism in the pediatric community. Content The databases used were PubMed, google scholar, and LILACS, with the search terms “thyroid storm” AND “pediatrics”. Studies included case reports and case series in English and Spanish from patients between the ages of 0–21 years with clinical features consistent with a diagnosis of TS based on ATA 2016, with or without reported scale scores, published between 2000 and 2022. Variables such as ethnicity, etiology, possible triggers, clinical features, and management components were analyzed and presented. Summary We analyzed data from 45 patients. Their mean age was 11.25 years. The majority of them were from Asia (26%). The most common clinical features were sinus tachycardia (86.7%) and fever (64%), followed by altered mental status (46%) and diarrhea (31%). Graves’ disease was the most common underlying condition, and infection the most common precipitant. Thirty one percent of patients received treatment with four components; however morbidity and mortality were not clinically significant with those who did not. TS has a heterogeneous presentation with multisystemic involvement. The most common symptoms in this review were fever, tachycardia, diarrhea, and altered mental status. Outlook Further studies may be needed to best standardize the diagnosis and management of TS in children. Qualitative studies are needed to best assess the delay in diagnosis of hyperthyroidism and how this may impact prognosis in case patients were to develop TS.

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Introduction Disorders of sexual differentiation (DSD) are conditions of abnormal chromosomal development leading to atypical gonadal and anatomic sexual characteristics. We present the case of two siblings with 46, XX testicular DSD due to a mutation in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1). While there is extensive literature about pathogenic variants of this gene, this is the first variant that has been shown to cause DSD in XX individuals, rather than XY. Case presentation This is the case of a sibling pair with male phenotype and history of hypospadias and hypogonadism in the setting of 46, XX karyotype. Sibling A presented with hypospadias at birth and hypergonadotropic hypogonadism in childhood, initially managed with testosterone. Testicular biopsy revealed bilateral germ cell aplasia with degeneration of seminiferous tubules. Sibling B presented at age 8 with precocious puberty. He had a history of hypospadias and cryptorchidism at birth. Gonadotropins and testosterone levels were prepubertal. Testicular biopsy showed only Sertoli cells. Their adrenal gland and thyroid function was normal, their bone age was advanced. FISH was negative for the SRY gene in both cases, no ovaries or mullerian structures found in pelvic imaging. DSD genetic panels were sent, resulting positive for the R92W variant in NR5A1. Neither of them have intellectual disability; however, sibling B has attention deficit and hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). Family history is remarkable for two uncles that have been unable to conceive. Their mother had oligomenorrhea and difficulty conceiving, typical presentation of a female carrier of this mutation. Discussion and conclusions The majority of DSD in individuals with a 46, XX karyotype are due to congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, however, mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. NR5A1 is an essential transcription factor that regulates target genes crucial for normal reproductive physiology and endocrine function, controlling several steps of adrenal and gonadal development. While there is extensive literature about the phenotype caused by variants of NR5A1 in XY individuals, the recurrent heterozygous p.Arg92Trp NR5A1 variant R92W that our patients have, is the only one that has been shown to cause DSD in XX individuals, with variable degrees of testis development. It has previously been described, however, in women with primary ovarian insufficiency (POI). Morevariants of this gene will continue to arise, playing a pivotal role in reproductive endocrinology. Presentation: Saturday, June 11, 2022 1:00 p.m. - 1:05 p.m., Saturday, June 11, 2022 1:00 p.m. - 1:05 p.m., Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.