A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl.

A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis.

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent forehead, thin sparse hair, teeth abnormalities and a high or cleft palate. We report on another rare case of interstitial 2q33 deletion found during routine karyotyping and further characterized by the use of a genomic SNP array. The patient presented here has a "Marfanoid" phenotype, hypothyroidism, and a marked tactile hypersensitivity. We concluded that hypothyroidism might be caused by the deletion of the CD28 and/or CTLA4 genes; also cardiological monitoring of patients with the deletion including BMPR2 may be considered in order to prevent the possible medical complications associated with pulmonary hypertension.

Skeletal status and laboratory investigations in adolescent girls with anorexia nervosa.

To our knowledge anorexia nervosa (AN) adversely influences bone density, but whether qualitative characteristics of bone are also affected is not known. For this reason we investigated prospectively the changes in skeletal status in a population of 18 adolescent girls with AN aged 11.5-18.1 years (mean 15.9+/-1.9 years) using both dual-photon X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) measurements, bone turnover markers (osteocalcin, bone alkaline phosphatase - bALP, carboxy-terminal cross-linked telopeptide of type I collagen - ICTP), and laboratory investigations (serum total and ionised calcium, serum phosphate, urine calcium/creatinine ratio, luteinizing hormone - LH, follicle-stimulating hormone - FSH, estradiol). Measurements of bone mineral density at the spine (s-BMD) and total body (TB-BMD) and amplitude-dependent speed of sound (Ad-SOS) of the hand phalanges were performed at baseline, 7.8+/-2.4 and 19.4+/-5.6 months of follow-up. The mean values of TB-BMD, s-BMD and Ad-SOS measurements did not change during the period of observation. The mean Z-scores for TB-BMD and Ad-SOS were significantly lower after 19.4 months of observation vs. baseline (-1.06+/-1.00 vs. -0.67+/-0.98 vs. and -0.50+/-0.88 vs. 0.26+/-1.75, respectively). Z-scores for s-BMD decreased non-significantly (p=0.08). Among bone turnover markers, we observed a significant increase in bALP and a non-significant increase in osteocalcin serum concentrations which were below normal ranges for age, sex and Tanner stage at baseline. High baseline serum ICTP concentration decreased non-significantly, reaching normal ranges during the observation. We conclude that anorexia nervosa seriously affects skeletal status in adolescent girls. Bone turnover markers analysed together with densitometric parameters suggest that AN influences both bone formation and resorption processes. QUS measurements at hand phalanges may be an appropriate method in the evaluation of skeletal status in patients with AN.

[Anorexia nervosa in boys and men]. / Jadlowstret psychiczny u chlopców I mezczyzn.

Anorexia nervosa (AN) is thought to appear predominantly in girls and young women. Twenty years ago the incidence of AN was considered as 1 boy to 10-15 girls. Recent data suggest that the girls to boys rate is 4:1. The most frequently AN in boys begins during puberty. Boys and young men reluctantly apply for help to medical professionals trying to hide their symptoms. The diagnosis of AN is established and the treatment is being performed only when they suffer from a marked loss of weight or a severe depression with suicidal thoughts. We report seven male patients with AN and review the differences in a course of this disease between male and female patients.

[Familial precocious puberty -- a variant of norm or pathology?]. / Rodzinne przedwczesne dojrzewanie plciowe -- wariant normy, czy patologia?

Since 1937, when familial precocious puberty (FPP) was described for the first time, only few reports on FPP have been published. The majority of them is concerned with the most investigated form of FPP, occurring only in male --testotoxicosis (male-limited precocious puberty -- MLPP). Recently another form of FPP -- familial hyperestrogenism (aromatase excess syndrome -- AES) has been described. The authors aimed to review the literature data concerning different forms of FPP emphasizing the diagnostic criteria, etiology, mode of inheritance and treatment.

Prospective evaluation of leptin and neuropeptide Y (NPY) serum levels in girls with anorexia nervosa.

OBJECTIVES: The pathogenesis of anorexia nervosa (AN) remains still unclear. It has been reported that neuropeptides may play a role in the control of appetite and hormone release contributing to hormonal disturbances in AN. However the question if neuropeptide alterations are consequence or cause of malnutrition is still unresolved. METHODS: Serum leptin, neuropeptide Y (NPY) concentrations as well as hormones (FSH, LH, estradiol, cortisol and fT4) serum levels were prospectively estimated in 19 girls aged 11.7-17.7 years (mean 15.5 years) with anorexia nervosa (AN) at the admission to the hospital (baseline) and at follow-up after 7.21+ 2.32 months of treatment. The treatment consisted of hypercaloric diet, psychotherapy and vitamins supplementation. RESULTS: Mean leptin concentration significantly increased from 7.99 + 2.6 to 9.98 + 2.48 microg/ml (p<0.01), whereas mean NPY concentration significantly decreased from 34.10 + 9.81 to 29.6 + 8.04 pmol/l (p<0.01). Leptin/BMI ratio was constant, while NPY/BMI ratio decreased. There were no significant differences between leptin and NPY serum concentrations at baseline and follow-up in eumenorrheic vs. amenorrheic patients. Simple linear correlation analysis showed negative correlation between leptin and NPY concentrations at baseline (r=-0.67; p<0.05) and at follow-up (r=-0.76; p<0.05) only in eumenorrheic subgroup. There were no significant correlations between leptin, NPY and BMI and body weight values. CONCLUSIONS: 1) Serum concentration of leptin increases and serum concentration of NPY decreases significantly during the treatment of anorectic girls. 2) These changes do not correspond with increasing body weight and BMI suggesting disregulation of appetite and body weight control mechanisms in AN. 3) Altered neuroregulation of the neuropeptides (leptin and NPY) secretion may contribute persistent amenorrhea after weight gain in anorectic patients with low initial BMI.

[Association of brain computed tomography images of intracranial calcifications in three different cases of hypoparathyroidism]. / Zbieznosc obrazu radiologicznego zwapnien wewnatrzczaszkowych w tomografii komputerowej mózgowia u trójki pacjentów z róznymi postaciami niedoczynnosci przytarczyc.

The problem of intracranial calcifications in children has not been widely discussed in the literature yet. The aim of this study is to emphasise different clinical aspects of intracranial calcifications found in subcortical nuclei and cerebellum in children with disturbed calcium metabolism. We report three different cases of hypoparathyroidism in children in whom similar radiological changes on computed tomography (CT) of the brain were found. An 11-year-old boy was referred to us after episode of tetany. We confirmed the diagnosis of idiopatic hypoparathyroidism (presence of Chvostek and Trousseau signs, hypocalcemia, hyperphosphatemia, low parathormone serum concentration). On brain CT small, symmetric calcifications in the subcortical nuclei and frontal lobes were imaged. A diagnosis of pseudohypoparathyroidism type Ib in 10-year-old girl was established on the basis of clinical symptoms (syncope with seizures, recurrent carpopedal spasms in the past) and laboratory investigations (hypocalcemia, hyperphosphatemia, high parathormone serum concentration). In 11-year-old girl autoimmune polyglandular syndrome type I was diagnosed (hypoparathyroidism with chronic mucocutaneous candidiasis and nail dystrophy from the age of 2). CT of the brain showed multiple irregular symmetric calcifications in cerebellar hemispheres, internal capsula and subcortical nuclei on the border of white and grey matter in both frontal lobes.