ACTA ENDOCRINOLOGICA (BUC)

Context. Ovarian failure leading to delayed puberty and infertility is a cardinal sign in patients with Turner syndrome (TS). Objective. We reviewed the pattern of puberty in a group of Irish patients with TS. Design. This was a prospective observational study conducted at the National Children’s Hospital, Dublin, Ireland. Subjects and Methods. All patients aged 12–19 years and attending the paediatric endocrinology service with a confirmed diagnosis of TS were enrolled. Eligible patients underwent puberty assessment using Tanner staging and had 3 ml of blood taken for measuring luteinising hormone (LH), follicle-stimulating hormone (FSH) and oestradiol. Results. Out of 65 patients with TS identified from the medical and laboratory records, 42 aged 12 to 19 years were enrolled. Clinical assessment of puberty using Tanner staging revealed that 21 patients (50%) had spontaneous puberty (breast stage 2–5). Fourteen individuals out of 23 with mosaicism experienced spontaneous puberty (61.9%) compared with 7 out of 19 (36.8%) carrying a 45,X karyotype (P = 0.10). Of the 21 patients who had spontaneous puberty, 9 (43%) achieved menarche ; 6 of them were mosaic while the other 3 had 45 X karyotype (P = 0.33). The mean age of spontaneous menarche was 13.9 ± 1.97 years (range 10.9–18.9). One patient with spontaneous puberty achieved two successful pregnancies. Conclusions. Spontaneous puberty occurred in half of TS patients in this cohort and among these, 43% achieved spontaneous menarche. Prevalence of both spontaneous puberty and menarche were higher in mosaic patients compared to those with 45X karyotype.

Introduction. Leprechaunism is a rare autosomal recessive condition characterized by dysmorhic features, growth failure and disordered glucose homeostasis. Case report. A term infant was born to a first cousin, who previously lost a baby with Leprechaunism. Pregnancy and delivery were uneventful. Birth weight, length and head circumference were all below the third centile. Clinical examination at birth reveals large low set ears, depressed nasal bridge, gingival hyperplasia, prominent nipples, umbilical hernia, lipodystrophy, hypertrichosis, and wrinkled loose skin. Examination of the genitalia showed a prominent phallus, posterior fusion of the labioscrotal folds and no palpable gonads. A clinical diagnosis of Leprechaunism was made based on the family history and the clinical phenotype. In addition to the presence of ambiguous genitalia, management of this infant was complicated by poor glycemic control with frequent hyper and hypoglycemic episodes. Insulin was inappropriately high (1626.1 mU/mL, normal 3-17 Mu/mL) when glucose was relatively low (3.2 mmol/L) indicating insulin resistance. ACTH stimulation test confirmed an intact adrenal function with normal 17 hydroxyprogesterone and cortisol. Testosterone and adrenal androgens were normal. Chromosomal study showed 46 XX and MRI abdomen revealed normal pancreas and internal female organs. Accordingly, this infant was assigned as a female. Severe hyper and hypoglycemic episodes responded to introduction of frequent nasogastric formula milk feeding together with insulin glargine. Glycemic control improved with glycated hemoglobin of 8%. Conclusion. This case report illustrates a management challenge of a newborn infant with Leprechaunism, ambiguous genitalia and poor glycemic control and discuss treatment options.

Context. Vitamin D, a fat-soluble prohormone, is synthesized in response to sunlight and plays several roles in the body. Objectives. To determine Vitamin D status among healthy, young female medical students studying at King Saud University, Riyadh, Saudi Arabia, and to study the effects of nutritional and environmental factors on Vitamin D level. Study design. It is a prospective, observational, cross-sectional study conducted between December 2012 and March 2013. Subjects and methods. One hundred and seventy eight healthy medical students participated in the study. Each subject completed a questionnaire about vitamin D deficiency and attitude towards related environmental and nutritional factors, including duration of sunlight exposure, and vitamin D supplements. Serum levels of 25-hydroxyvitamin D, parathyroid hormone, calcium, phosphorus, and alkaline phosphatase were obtained.Results. The mean serum vitamin D level of the study group was 41.41±29.31 mmol/L (normal 75–250 mmol/L). Out of 178 participants, 126 (70.8%) were vitamin D deficient (<50 mmol/L), 29 (16.3%) had insufficient vitamin D (50–75 mmol/L), and 23 (12.9%) had normal vitamin D level (>75 mmol/L), with mean serum levels of 25.52±10.89, 62.84±7.04 and 101.41±9.1 mmol/L, respectively. In comparison between vitamin D deficient and nondeficient groups, daily milk consumption (P < 0.001), use of vitamin D supplements (P < 0.0001), and frequency of sun exposure for ≥ 5 days/week (P < 0.006) were significantly higher in the nondeficient group. Conclusion. Prevalence of vitamin D deficiency among female medical students in Riyadh is high and may be attributed to nutritional, social and environmental factors.