Sexual infantilism in a normal karotypic female related to ovarian agenesis associated with Müllerian agenesis--Case report.

PURPOSE: To describe an unusual case of Müllerian agenesis associated with gonadal agenesis and thus sexual infantilism. MATERIALS AND METHODS: Pelvic magnetic resonance imaging (MRI) and sonography were performed and MRI of the kidneys. Pelvic sonography and serum follicle stimulating hormone (FSH) were also obtained. RESULTS: The only pelvic organ that this 15-year-old girl had was the distal portion of the vaginal canal. The kidneys were normal. CONCLUSIONS: This case suggests that at least in some cases some possible viral damaging process may lead to damage to both the ovaries and the Müllerian system. If there was a problem with the anti-Müllerian hormone (AMH), the kidney may be affected. Furthermore, AMH has nothing to do with the ovaries and a chance association of these two entities though possible, seems less likely than a common factor causing both problems.

Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl.

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.

Adult cystic fibrosis--a rare diagnosis from India.

Cystic fibrosis (CF) is a multisystem disease characterized by chronic pulmonary infection, bronchiectasis, exocrine pancreatic insufficiency and elevated sweat chloride level. It is commonly considered as a pediatric disease. But it is now being diagnosed in increasing number of adults due to increased survival from availability of potent antibiotics, nutritional facility and diagnosis of mild cases which were unrecognized previously. CF is rarely reported from India and its adult presentation is rarer. Our case, a Hindu female from West Bengal, India was diagnosed to have CF at the age of 29 years. She had chronic cough and wheezing since childhood being treated as asthmatic patient. She had poor nutrional status, short stature and sexual infantilism. She had premature cataract. Because of chronic cough and expectoration we performed HRCT scan of thorax which revealed bilateral bronchiectasis. She had bilateral maxillary sinusitis and hypoplastic frontal sinus. Repeated sweat chloride tests revealed high values suggestive of CF. CF should be considered in differential diagnosis of adults with bronchiectasis and chronic sinusitis or child with bronchial asthma. High level of awareness is needed to diagnose CF in India, because of its rarity.