Partial androgen insensitivity syndrome (PAIS) is the milder variant of androgen receptor (AR) defects. The subtle effects of AR mutations present in a patient with micropenis, peno-scrotal hypospadias, infertility, clitoromegaly and posterior labial fusion. We studied the association of isolated micropenis with the genetic defects resulting in androgen resistance, that is, AR gene defects and ...

Turner syndrome (TS) and related sex chromosome abnormalities are associated with a variety of karyotypes and phenotypes affecting 1 in 2500 live births. Mosaicism with Y material (45,X/46,XY) and female phenotype is rare (<1 in 15 000 births)[1]. Their risk of gonadal malignancy is 10-15%, and up to 50% in those with ambiguous phenotype at birth[2]. The SHOX gene is located on both X and Y chr...

Ovarian cysts (OCs) have been described in patients with congenital adrenal hyperplasia (CAH), however, neonatal OCs are rare in CAH. We report a unique neonate with 21-hydroxylase deficiency (21OHD), having functional OCs which developed after the start of treatment for CAH. The patient was referred for clitoromegaly at age of 5 days. Because of elevated ACTH, 277 pg/ml; 17-alphahydroxyprogest...

Hirsutism by definition describes the quality of body hair, implying coarseness, but common usage has extended the meaning to denote an excess of hair-locally or generalised. Body hair is of two types: fine, non-pigmented vellus hair-for example, facial "down"-and coarser pigmented terminal hair as in the scalp and axillas. The visual impression of hairiness is produced by the coarser type. Hir...

BACKGROUND Anabolic androgenic steroids (AAS) are testosterone derivatives used by athletes and recreational users to improve athletic performance and/or enhance appearance. Anabolic androgenic steroids use may have serious and potentially irreversible adverse effects on different organs and systems, including the reproductive system. OBJECTIVE This systematic review and meta-analysis aimed t...

Hypospadias occurs in approximately 0.2 to 4.1 1000 live births.1Epelboym Y. Estrada C. Estroff J. Ultrasound diagnosis of fetal hypospadias: accuracy and outcomes.J Pediatr Urol. 2017; 13: 484.e1-484.e4Abstract Full Text PDF Scopus (11) Google Scholar,2Li X. Liu A. Zhang Z. An Wang S. Prenatal hypospadias with 2-dimensional 3-dimensional ultrasonography.Sci Rep. 2019; 9: 8662Crossref PubMed (6...

Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. Congenital adrenal hyperplasia is the most common condition leading to inappropriate virilization in females....