Macro-orchidism in juvenile hypothyroidism

A boy, aged 16 years, with absence of development of the secondary sex characteristics, inappropriately large testes for his stage of puberty, and short stature is described. The symptoms were secondary to long-standing prepubertal hypothyroidism. Following therapy with thyroxine, there was a rapid advancement in growth velocity, full development of the secondary sex characteristics, and reduction in the size of the testes.     

Comparative study of plasma ghrelin levels in women with polycystic ovary syndrome, in hyperandrogenic women and in normal controls

BACKGROUND: Ghrelin is a novel peptide associated with energy balance, obesity, and perhaps gonadal function. The present study was designed in order: (i) to compare plasma ghrelin levels between women with PCOS, women who presented only with hyperandrogenaemia and healthy controls; and (ii) to investigate the relationship between circulating ghrelin and the heterogeneity of clinical and biochemical manifestations of PCOS. METHODS: Two hundred and fifty-nine women with PCOS, 25 women who had only hyperandrogenaemia and 46 controls, were studied. Women with PCOS were further divided, based on the presence of chronic anovulation, biochemical hyperandrogenaemia, clinical hyperandrogenism, and polycystic ovary morphology on ultrasound evaluation. In all women, the basal levels of gonadotrophins, androgens, 17-OH-progesterone, sex hormone-binding globulin, glucose, insulin and ghrelin were measured. RESULTS: Women with PCOS had lower ghrelin levels, compared to both women with hyperandrogenaemia and controls; women with hyperandrogenaemia had lower ghrelin levels, compared to controls, but not significantly so. While PCOS-associated hyperandrogenaemia was inversely related to ghrelin levels, anovulation and polycystic ovary morphology were associated with higher concentrations. Ghrelin levels were negatively correlated with 17-OH-progesterone levels. CONCLUSIONS: In PCOS, circulating ghrelin and androgens are inversely related and it is possible that this peptide is involved in steroidal synthesis and/or action. It is also likely that different clinical and biochemical manifestations of the syndrome are also associated with different ghrelin concentrations.     

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.     

Do characteristic spermatozoal morphological abnormalities exist in patients who have undergone unilateral orchiectomy and preventive radiotherapy?

DESIGN: We examined 16 men who had been subjected to unilateral orchiectomy owing to seminoma and to preventive radiotherapy, in order to investigate the morphologic abnormalities of the spermatozoa (headless and small-round-headedness) that may contribute to infertility. RESULTS: The same morphologic abnormalities of the head and neck found in the semen samples of fertile men were also found in the semen samples of the patients, albeit in higher percentages; the morphologic abnormalities of the tail in the semen samples of the patients were similar to those of the fertile men, both qualitatively and quantitatively. CONCLUSION: No specifically characteristic morphologic abnormalities of the spermatozoa were detected in men who were subjected to unilateral orchiectomy and to preventive radiotherapy in comparison with fertile men. The percentage rate of morphologic tail abnormalities is not affected by preventive radiotherapy.     

Serum leptin levels in normal-weight and overweight women with polycystic ovary syndrome

The aim of this study was to evaluate serum leptin levels in women with polycystic ovary syndrome (PCOS) and in controls with normal or abnormal body mass index (BMI), since the literature data are contradictory. The study population comprised 34 women with PCOS and 30 regularly cycling women, with normal or abnormal BMI. PCOS was defined by clinical, ultrasonographic, and hormonal findings. The women were divided into four groups according to the diagnosis of PCOS and their BMI values. In all women serum levels of FSH, LH, prolactin, testosterone, androstenedione, DHEA-S, 17alpha-OH progesterone, SHBG, insulin, glucose and leptin were determined. It was found that: (a) there was a significant interaction between BMI and PCOS in increasing serum leptin levels; (b) the dominant factor for serum leptin levels in women of all Groups was BMI, followed by insulin; (c) once we corrected for BMI, it was found that there was a significant correlation between serum leptin levels and insulin values, as well as between serum leptin levels and testosterone concentrations; and (d) the QUICKI IR formula presented the most significant correlation with serum leptin levels than the other measures of insulin sensitivity. Our results showed that serum leptin levels in a subgroup of overweight women with PCOS and insulin resistance were higher than those expected for their BMI, and therefore leptin might interfere in the pathogenesis of this syndrome.     

Could the theory of chaos contribute to the interpretation of pathogenesis of polycystic ovary syndrome?

Polycystic ovary syndrome (PCOS) is a syndrome involving defects in primary cellular control mechanisms that result in the expression of chronic anovulation and hyperandrogenism. In this syndrome the relation between the various parameters is of particular interest. These relations constitute the cornerstone of the pathogenesis of PCOS. The fact that the pathogenesis of the PCOS has not yet been clarified, despite the plethora of relative information, may be the result of a general way of thinking in the interpretation of several scientific data, and especially those that refer to biochemical phenomena. The use of the various models of the theory of chaos, that permits a concrete approach for the interpretation of data, may constitute an optional procedure for the future understanding of the association of different parameters and their disturbances in the pathogenesis of PCOS.     

Pneumonectomy in pulmonary mucormycosis complicating Beh?et's disease.

A 37 year old man with Behçet''s disease who was maintained on prolonged corticosteroid therapy, developed diabetic ketoacidosis and pneumonia. Secondary infection with mucor intervened with abscess formation cured by pneumonectomy. The association of Behçet''s disease and mucormycosis has not been previously reported, although diabetes mellitus was almost certainly the predisposing cause. Surgical treatment offers the best chance of survival in similar cases.     

Uneventful Cesarean Delivery with Administration of Factor XI Concentrate in a Patient with Severe Factor XI Deficiency

Factor XI (FXI) is a procoagulant factor and antifibrinolytic agent, and its absence causes a bleeding tendency. FXI deficiency is autosomal in inheritance, with severe FXI deficiency in homozygotes and partial deficiency in heterozygotes. A 24-year-old primigravida with an uneventful pregnancy and no history of bleeding manifestations was admitted to our department at 38 weeks of gestation. Her blood count and serum biochemistry findings were normal except for a coagulation screen, which revealed a prolonged activated partial thromboplastin time (APTT) of 63 seconds (normal range, 24-35 seconds). The measured FXI coagulant activity of 8 IU/dL (reference range, 70-150 IU/dL) established a diagnosis of severe FXI deficiency. The breech presentation of the fetus prompted the decision for cesarean delivery under general anesthesia. We administered a single dose of FXI concentrate (15 IU/kg), which corrected the APTT to 34 seconds. The cesarean delivery was uncomplicated, and postpartum recovery of the mother and her baby was uneventful with no bleeding complications. The finding of an isolated prolonged APTT should prompt obstetricians to consider FXI deficiency. The appropriate use of factor FXI concentrate in managing obstetric patients with FXI deficiency can minimize potential bleeding complications and ensure an optimal outcome for both mother and neonate.     

Genetics: Familial blepharophimosis with ovarian dysfunction

Three cases including two sisters and one brother with blepharophimosisare described. Their father also had blepharophimosis. Moreover,the elder sister initially presented with resistant ovary syndromeand thereafter true premature menopause, while the younger onepresented with resistant ovary syndrome. The explanation forthe association of blepharophimosis with primary ovarian dysfunctionis unknown, but the possibility of a microdeletion of geneticmaterial containing two geographically associated, but independentgenes could not be confirmed or excluded. All families affectedby blepharophimosis should be counselled about the high incidenceof ovarian dysfunction and female infertility, at least in oneform of the syndrome.