CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders
sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically …

The pituitary gonadotropins luteinizing hormone and follicle-stimulating hormone (FSH) regulate
the production of sex steroids necessary for pubertal development and fertility. Inherited …

Approximately 70% of women with polycystic ovary syndrome (PCOS) have intrinsic insulin
resistance (IR) above and beyond that associated with body mass, including dysfunctional …

By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject
with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal …

Context: A broad analysis of adrenal gland-derived 19-carbon (C 19 ) steroids has not been
reported. This is the first study that uses liquid chromatography–tandem mass spectrometry …

Turner syndrome (TS) is a complex developmental disorder in individuals with short stature
who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome …

<p id="p001">Although androgen resistance has been characterized in men with a normal
chromosome complement and mutations in the androgen-receptor gene, a mutation in the …

… *Address all correspondence and requests for reprints to: Lawrence C. Layman, MD,
Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and …

The nonsense-mediated mRNA decay (NMD) pathway functions not only to degrade transcripts
containing premature termination codons (PTC), but also to regulate the transcriptome. …

MicroRNAs (miRNAs) are short noncoding RNAs involved in posttranscriptional regulation
of gene expression and influence many cellular functions including glucose and lipid …