Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an additional case of a phenotypically female...

Elephantiasis of the external genitalia is characterized by lymphedema and thickening of the subcutaneous tissues. This gives the skin an appearance similar to a pachyderm skin. This pathology is invalidating for the patient. Reconstructive surgery is often the only way to restaure aesthetic and functional aspects of the external genitalia. We aim to report a 52 year man with huge penoscrotal e...

Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there have been improvements in diagnosis and early management, pa...

Findings Out of 85 patients 34.2% was female and 65.8% were male (mean age 6.5± 3.9 years). Clinical symptoms were skin involvement in all patients (100%), GI involvement in 70.6%, joint and renal involvement (in acute phase) in 57.6% and 21.2%, respectively. Out of 56 male patients, 35.7% had genitalia involvement (75% scrotal swelling, 45% epididimo-orchitis like symptoms, 5% penis inflammati...

OBJECTIVE To report a case of type 2 Antley-Bixler syndrome (ABS). SUBJECT AND METHODS A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. Genetic testing confirmed the diagnosis of ABS. A surgical intervention was performed to correct the ambiguous genitalia through a combined perin...

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner...

Male genitalia in several insect species are asymmetry in right and left shape. However, the function of such asymmetric male genitalia is still unclear. We found that the male genitalia of the damselfly Calopteryx cornelia (Odonata: Calopterygidae) are morphologically symmetric just after emergence but asymmetric after reproductive maturation. Males remove rival sperm stored in the female burs...

INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...

Two new species of Varma Distant, 1906, V. falcata Chang & Chen, sp. n. (China: Guizhou) and V. lobata Chang & Chen, sp. n. (China: Guizhou) are described and illustrated. The female genitalia of four speices including two known species are described and illustrated for the first time. The diagnostic characters of this genus are redefined. A checklist to the species of Varma in China is given. ...

Nagiella occultalis Misbah & Yang, sp. n. from China is described and illustrated. This new species is very similar to N. quadrimaculalis (Kollar, 1844) in general morphological characters of forewing and male genitalia. Molecular evidence shows that these two species diverge in COI barcode region by more than 3.2%. Sequence divergence among the two species is congruent with subtle morphologica...