OBJECTIVE To study the clinical profile and the management of patients with disorders of sex development (DSD). DESIGN AND SETTING Retrospective study from a tertiary care hospital of North India. METHODS AND PATIENTS One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were in...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In t...

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in...

Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH) remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosing of glucocorticoids (GC). As a result, alternating cycles of androgen versus GC excess can occur and may lead to short stature, obesity, virilizat...

Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol fr...

BACKGROUND In contrast to the high incidence of testicular adrenal rest tumours (TART) in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumours in female CAH patients are very rare and other locations of adrenal rest tumours have never been reported. Here, we report on an adult patient with CAH due to 3beta-hydroxysteroid dehydrogenase (HSD) deficiency with...

BACKGROUND AND OBJECTIVES The purpose of this case report is to illustrate the anesthetic management of a Cesarean section in a patient with non-classic congenital adrenal hyperplasia (CAH) and to review the clinical features and management of various forms of CAH during pregnancy. CASE REPORT A 32-year-old primigravida, diagnosed with non-classic CAH, was admitted with intrauterine growth re...

This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon...

Congenital adrenal hyperplasia (CAH), nonclassic form (with delayed debut) is the second cause of hyperandrogenism with a prevalence of 1,4-4%. The aim of the study was to establish the frequency of main hyperandrogenic manifestation in a group of women diagnosed with non-classic form of CAH. The study was performed on 41 patients diagnosed with non-classic form of CAH through the measurement o...