RESUMEN
@#A 16.5-year-old Indian female presented with secondary amenorrhoea, cubitus valgus, scoliosis and multiple lentigines on the face. Karyotyping revealed mosaic Turner syndrome (TS) with 45, X/46, X iXq. She also had multiple café-au-lait macules and axillary freckles but no neurofibroma and did not fulfil the classic criteria for diagnosis of Neurofibromatosis-1(NF1). Many of her macules were smaller than 15 mm in diameter, which might be due to her hypoestrogenic state. However, exome-sequencing found a pathologic variant consistent with NF1. She was started on daily oral estrogen, and oral progesterone for 10 days every month with close monitoring for neurofibroma and/or glioma expansion. Co-occurrence of NF1 and TS is extremely rare, TS and NF1 can both affect growth and puberty, cause different cutaneous and skeletal deformities, hypertension, vasculopathy and learning disabilities. Our case highlights the need for genetic testing in some cases with NF1 who do not strictly fulfil the NIH diagnostic criteria. We also emphasize the need for close monitoring during therapy with growth hormone, estrogen and progesterone due to the potential risk of tumour expansion in NF1.
Asunto(s)
Síndrome de Turner , Neurofibromatosis 1RESUMEN
@#A 62-year-female presented with bilateral proptosis and 1 year episodic eye pain, grittiness, redness, watering and intermittent diplopia for 6 months, and drooping of right eye lid for 2 months (Figure 1). She had a firm WHO grade-1b goiter, exopthalmos (26 mm and 23 mm in left and right eye respectively, Hertel exopthalmometer), clinical activity score of 1/6, without any evidence of bulbar, neck muscles and limb weakness.
Asunto(s)
Oftalmopatía de Graves , HipotiroidismoRESUMEN
@#A 13-year-old Indian boy presented with progressive non-painful enlargement of bilateral breasts for 2 years. (Figure1) There was no history of any drug intake that could lead to gynaecomastia with no significant past medical history. His BMI was 28.5 kg/m2, no icterus, no stigmata of liver disease, acanthosis was present, sexual maturity rating P1 A1, and stretched penile length was 5 cm, testicular volume 3 ml bilaterally of normal consistency; with a bone age of 13 years and a disc diameter of 6 cm bilaterally. Investigations revealed normal liver function tests, fasting testosterone levels of 67 ng/dl, LH 1.17 U/L, FSH 3.68 U/L, FBS 90 mg %, and PPBS 107 mg%. Considering the overall clinical picture, a diagnosis of Peripubertal Gynaecomastia was made. Obesity could have been a contributing factor to the development of this condition in this patient. He denied having taken any estrogenic compounds but environmental exposure cannot be ruled out as we did not assay for the levels of these environmental endocrine disruptors and estrogenic agents. However, increased pigmentation of nipples and areola is a common feature of gynaecomastia due to exogenous synthetic estrogen exposure which was absent in this case.
Asunto(s)
Pubertad , MamoplastiaRESUMEN
@#Fibrocalcific pancreatic diabetes (FCPD) is a rare form of ketosis-resistant diabetes in the young (15 to 40 years old) of unknown etiology. It has been observed in tropical and subtropical countries with highest incidence in south India, and is believed to have some association with tropical chronic pancreatitis, malnutrition, toxin exposure (e.g., cassava) and SPINK1 mutation. It is associated with a hundredfold increased risk of pancreatic cancer compared to the general population.
Asunto(s)
Carcinoma , Páncreas , Tamizaje MasivoRESUMEN
@#An eight-year, 4-month old Indian girl with low IQ and delayed milestones, presented with headache (4 years), breast development (4 months), and menstrual bleeding for 22 days. Examination revealed short stature [height: 91.5 cm; SD score: -5.59], coarse dry skin, umbilical hernia (arrow), delayed reflexes, Tanner’s stage-3 breasts, absent pubic and axillary hair