Familial male pseudohermaphroditism

Familial male pseudohermaphroditism (MPH) due to 17, 20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17, 20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17, 20-desmolase deficiency.     

Multidrug resistant tinea corporis/cruris: Response to voriconazole

The increasing worldwide resistance to terbinafine and older antifungal drugs, coupled with often erratic clinical responses to itraconazole, leaves dermatologists with limited options to deal with dermatophytic infections. Recalcitrant dermatophytoses has however, over past few years, become a significant public health issue, especially in India. In this context, we present a patient who failed four systemic antifungals sequentially and was subsequently cured with a 2 week course of voriconazole, an antifungal not routinely used for dermatophytoses as yet.     

Prenatal diagnosis and assessment of fetal malformations by ultrasonography in India

A multicentre study to assess the status of prenatal diagnosis of fetal malformation in India was conducted. Questionnaires were sent to the teaching hospitals and to centres in the private sector involved with ultrasonography in all the four zones. Data were obtained from 13 centres. Basic level scans were performed on all pregnant women in 64% centres, whereas level II or targeted scans were performed as routine in 42% centres. Obstetricians performed level II scans in only 35% of cases while rest were performed by radiologists. Malformations of the central nervous system were commonest, accounting for 35–69% of all malformations, followed by genitourinary and gastrointestinal malformations. Malformations of the cardiovascular system were detected in 9. 3% as abnormal four chamber view and outlet tract abnormalities, subsequently confirmed on fetal echocardiography. Invasive prenatal diagnosis by fetal blood sampling, chorion villus sampling and amniocentesis for chromosomal analysis of malformed fetuses was performed at 40% centres. At the All India Institute of Medical Sciences, approximately 11, 042 ultrasound scans were performed by obstetricians as routine in all pregnant women. A total of 543 malformations were detected accounting for a 4. 9% incidence of structural anomalies. A total of 98 cardiovascular malformations were detected in high and low risk pregnant women on fetal echocardiography. No database or registry exists in India to give an actual insight into the problem of congenital malformation and their prenatal diagnosis. It is important to train obstetricians in level I and II ultrasonography, to recognise centres and institutions at national and regional level, and to integrate a network of diagnostic testing. Close liaison between geneticists, radiologists, pediatric surgeons, pediatricians and obstetricians is a must for prenatal diagnosis and management of fetal malformations.     

Training of nonophthalmologists in diabetic retinopathy screening

The burden of diabetes mellitus (DM) and diabetic retinopathy (DR) is at alarming proportions in India and around the globe. The number of people with DM in India is estimated to increase to over 134 million by 2045. Screening and early identification of sight-threatening DR are proven ways of reducing DR-related blindness. An ideal DR screening model should include personalized awareness, targeted screening, integrated follow-up reminders, and capacity building. The DR screening technology is slowly shifting from direct examination by an ophthalmologist to remote screening using retinal photographs, including telescreening and automated grading of retinal images using artificial intelligence. The ophthalmologist-to-patient ratio is poor in India, and there is an urban–rural divide. The possibility of screening all people with diabetes by ophthalmologists alone is a remote possibility. It is prudent to use the available nonophthalmologist workforce for DR screening in tandem with the technological advances. Capacity-building efforts are based on the principle of task sharing, which allows for the training of a variety of nonophthalmologists in DR screening techniques and technology. The nonophthalmologist human resources for health include physicians, optometrists, allied ophthalmic personnel, nurses, and pharmacists, among others. A concurrent augmentation of health infrastructure, conducive health policy, improved advocacy, and increased people''s participation are necessary requirements for successful DR screening. This perspective looks at the characteristics of various nonophthalmologist DR screening models and their applicability in addressing DR-related blindness in India.     

Premenstrual dysphoric disorder--a study from India

OBJECTIVE: To study the prevalence of Premenstrual Dysphoric Disorder (PMDD) in Indian women. METHODS: Prospective recording of symptoms of PMDD over two menstrual cycles using a structured proforma. SUBJECTS: Sixty-two volunteers who returned pro formas complete in all respects. RESULTS: Four women (6.4%) fulfilled the criteria of PMDD. CONCLUSIONS: The prevalence of PMDD detected in this first report on the condition from India is comparable to the prevalence reported in previous studies. The group of women selected by applying such rigorous criteria appears to be heterogeneous with regard to symptom profile over the cycle.     

Inversion of uterus during cesarean section

Acute inversion of the uterus is a rare complication during cesarean section. We describe one such case in which diagnosis was made immediately and reversion was performed within few minutes. A high index of suspicion and prompt management can prevent further complications.