Tale of two rare diseases
A 20-year-old male born of consanguineous union, resident of urban Kolkata presented with lack of development of secondary sexual characteristics. The patient was full term normal delivery with uneventful antenatal period. The neonatal period was uneventful, but history of hospitalization in infancy due to respiratory illness from which patient apparently recovered, although no past medical records could be retrieved. Growth development milestones were normally attained. There was history of hyposmia. There was no history of poor scholastic performance or other any systemic disease. On examination, height was 170 cm (97th percentile), arm span was 169 cm upper segment/lower segment ratio was 0.76, and body mass index (BMI) was 21. Facial features were normal except for high-arched palate []. Sense of smell tested on graded dilution of spirit revealed hyposmia. There was also synkinesis and bilateral horizontal nystagmus. Sexual maturity scores showed micropenis (stretched penile length (SPL) 4.6 cm); small testes (bilateral < 2 ml); [] gynecomastia; and absence of facial, axillary, and pubic hairs. Systemic examination was normal. Bone age as calculated from Greulich and Pyle chart was delayed at 14 years []. Total testosterone was <10 ng/dl (265-800). On investigation, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) values from three pooled sample were 0.25 mIU/ml (1.7-8.6) and 1.25 mIU/ml (1.5-12.4), respectively. Morning cortisol was 7.99 μg/dl. Thyroid stimulating hormone (TSH) and free thyroxine (T4) were 3.60 μIU/ml (0.27-4.2) and 1.12 ng/dl, respectively. Stimulated LH values after 100 μg of aqueous tryptorelin inj. subcutaneously was 11.42 mIU/ml. Magnetic resonance imaging (MRI) of hypothalamo-pituitary region revealed normal olfactory bulb [], but shallow olfactory sulcus []. Audiometry showed no sensorineural deafness. Two dimensional (2-D) echocardiography did not reveal any cardiac anomaly. Ultrasound of abdomen does not reveal any visceral organ anomaly. Karyotype revealed two cell lines: One showing deletion of chromosome 13 at band 13p10.8 and another showing trisomy 13 with homologous Robertsonian translocation []. As LH rise was pubertal, patient was put on follow-up for puberty onset.