A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex development; TDSD/OTDSD), due to the presence of the testis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutations in pro-ovarian genes that repress testis development (e.g.

Impact of Age at Diagnosis and Hypothalamic Involvement on Body Mass Index Z-Score Change in Pediatric Brain Tumor Survivors.

Background: Obesity risk is increased for pediatric central nervous system tumor survivors. Hypothalamic involvement (HI) by tumor or treatment increases the risk. In healthy children, body mass index (BMI) normally declines until adiposity rebound (AR).

Perception and documentation of weight management practices in pediatric primary care.

Background: Pediatric obesity is a significant problem in the United States. The Childhood Obesity Action Network (COAN) published expert recommendations in 2007 for pediatric obesity prevention and assessment at well-child visits. The purpose of this study was to assess pediatric providers' perception and documentation of their adherence to the 2007 COAN guidelines.

Recognition and treatment of concurrent active and neurodegenerative langerhans cell histiocytosis: a case report.

Langerhans cell histiocytosis (LCH) is a disorder of dendritic cell proliferation with subsequent tissue damage often requiring chemotherapy. Neurodegenerative LCH presents with neuromuscular, cognitive, and behavioral alterations typically occurring years after diagnosis of active LCH. We present a male child with a 4-year history of growth arrest, polyuria, polydipsia, recurrent otitis media, and seborrheic dermatitis.

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal insufficiency.

Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.

Genetic and pharmacological studies have shown that the melanocortin-4 receptor (MC4R) is an important regulator of food intake and energy homeostasis. Consistent with these studies, several mutations of the MC4R gene have been identified as being associated with early-onset severe obesity. We report here the first in-frame deletion mutation of the MC4R gene (delta88-92) in an obese female patient with onset of obesity at less than 5 yr of age.