Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.
Blepharophimosis, Ptosis, and Epicanthus Inversus ; Blepharophimosis

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing’s syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings is because of a molecular defect due to dominant activating mutations in the widely expressed signalling protein Gsα. These mutations arise sporadically, often early in development, prior to gastrulation and can distribute across many or few tissues.1,2 We present a case of a 3½ year-old-girl who presented simultaneously with precocious puberty and hypophosphatemic rickets, along with fibrous dysplasia and café au lait macules.
Fibrous Dysplasia, Polyostotic ; Puberty, Precocious ; Rickets, Hypophosphatemic

The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma.
We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations.

Human ; Female ; Adolescent ; Dwarfism ; Karyotype ; Karyotyping ; Phenotype ; Pseudohypoparathyroidism ; Puberty ; Puberty, Delayed ; Turner Syndrome ; Brachydactyly

Background: Celiac disease is frequently associated with uncontrolled blood sugar and impaired linear growth in a child with type 1 diabetes mellitus. Objective: To study the impact of a gluten-free diet on several growth parameters in children with type 1 diabetes mellitus and celiac disease. Methodology: Two hundred and fifty six patients with Type 1 diabetes mellitus were screened (149 males and 107 females) during the study period of two years. Patients were evaluated for the clinical signs, biochemical investigations and family history of celiac disease in a tertiary care health centre in Western Uttar Pradesh, India. Results: Twenty four (9.3%) patients were diagnosed to have celiac disease; the mean age at diagnosis of diabetes was 9.37±7 years. Only one out of twenty four patients with celiac disease had been diagnosed before the detection of diabetes mellitus. Weight standard deviation score (SDS) increased from -0.12±1.3 at the start of gluten free diet to 0.8±0.9 after 12 months (p<0.004). Height SDS decreased from -2.46±1.1 at the start of gluten free diet to -2.14±0.9 after 12 months later (p=0.087). Bone age SDS increased from 9.2±6.3 at the start of gluten free diet to 10.3±6.7 after 12 months later. Height velocity increased from 4.7±0.7 cm/year in the year before treatment to 5.1+1.2 cm/year during treatment (p=0.05). The increase in Haemoglobin, serum calcium, and serum iron was statistically significant (p<0.05). Conclusion Patients with celiac disease associated with type 1 diabetes mellitus frequently have poor glycemic control and impairment in several growth parameters. When these patients are put on a gluten restricted diet, they show signs of improvement in terms of weight gain, height, serum Ca, serum iron, haemoglobin, and in height velocity.
Diabetes Mellitus, Type 1

Objective: Short stature can be caused by a great variety of congenital and acquired conditions, some of which present with additional symptoms and signs. Overall, the number of patients seeking medical attention for short stature may be considered as the tip of the iceberg. The objective of this study was to determine the pattern and etiological factors of short stature in children. Methodology: A cross-sectional study was carried out in the Department of Endocrinology at a tertiary care health center in north India from August 2012 to June 2015. Four hundred and fifty one children (280 boys and 171 girls), ranging from 4 to 18 years presenting with short stature were studied. Anthropometric measurements were plotted on Indian standard growth charts. Results: In this study, the male to female ratio was found to be 1.6:1, with mean chronological age of 11.6+3.2 years, and mean bone age of 7.8+2.8 years. The common etiologic factors in the order of frequency were constitutional delay in growth and puberty (41.2%), familial short stature (15.9%), type 1 diabetes mellitus (9.9%), and hypothyroidism (8.6%) while growth hormone deficiency (2.4%) was a relatively uncommon cause. The most common pathological cause for proportionate short stature was type 1 diabetes and for disproportionate short stature was hypothyroidism. Hypothyroidism caused the maximum retardation of bone age while the least bone age retardation was noticed in familial short stature. Conclusion Physiological/normal variants outnumbered the pathological causes of short stature. Endocrinological causes were found in almost one fourth of children with short stature; however, growth hormone deficiency was found in only 2.4% of the children.
Diabetes Mellitus, Type 1 ; Growth Hormone

Background: Celiac disease is frequently associated with type 1 diabetes mellitus, but is usually ill-defined and not usually suspected until the disease becomes advanced. Objective: To study the prevalence and clinical profile of celiac disease among patients with type 1 diabetes mellitus in a tertiary care referral centre in north India. Methodology: Two hundred and fifty six patients were screened (149 males and 107 females) during the study period of two years, patients were evaluated for the clinical signs, biochemical investigations and family history of celiac disease in tertiary care health center in western Uttar Pradesh. Results: Twenty four (9.37%) patients were diagnosed to have celiac disease; the mean age at diagnosis of diabetes was 9.34 ± 7.3 years. Only 1/24 patients with celiac disease had been diagnosed before detection of diabetes mellitus. The common manifestations were normocytic normochromic anemia (66.6%) followed by diarrhoea (62.5%), abdominal pain/bloating sensation (58.3%) and short stature (58.3%). Some uncommon manifestations were also observed in small number of patients: rickets (20.8%), recurrent hypoglycemia (16.6%), carpopedal spasm (8.3%), and night blindness (8.3%). Conclusion Celiac disease was found in about 10% of patients with type 1 diabetes, almost 10-20 times higher than that observed in general pediatric population. Atypical manifestations (rickets, recurrent hypoglycemia, carpopedal spasm and night blindness) were found to be common in patients with type 1 diabetes as compared to the general population. Unexplained anemia, diarrhoea, short stature and rickets should raise suspicion for the possibility of undiagnosed celiac disease in type 1 diabetes mellitus.
Diabetes Mellitus, Type 1 ; Anemia