Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University.

INTRODUCTION: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. PATIENTS: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008. RESULTS: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD. CONCLUSION: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.

Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis.

This is a report of a 13-year-old 45,X/46,XY patient who was assigned as female gender and had feminizing surgery during infancy. Psychological problems became progressively more severe from childhood to incapitation by age 13 years. Gender identity reversal was performed after extensive physiological testing. Because he wanted to have corrective surgery, his external genitalia sex reassignment was made male from female. There were surgical problems with his phalloplasty; after surgery at infancy there was reduction of the phallus with recession of the glans to the typical clitoral location. Genital response during sexual activity and satisfaction after reconstructive surgery for male genitalia are as yet unknown. This patient is a typical example for medical, psychological and surgical dilemmas of sex reassignment and the problems of early corrective surgery. Sufficient brain virilisation associated with undervirilised external genitalia is an important problem for assignment of gender identity.

"Maternal/Neonatal" iodine status in patients with prolonged physiological jaundice.

BACKGROUND: The increasing knowledge indicated that borderline hypothyroidism may cause neurodevelopmental disorders. Borderline compensated congenital hypothyroidism could caused by iodine deficiency or iodine overload. One of the most important etiological factors causing prolonged jaundice in the neonatal period is congenital hypothyroidism. Aimed of this study is to investigate the frequency of borderline or overt hypothyroidism in a group of newborn with prolonged physiological jaundice, and to evaluate iodine status of these babies and their mothers. METHODS: Fifty-five apparently healthy newborn were evaluated. Twenty-five of them showed borderline thyroid dysfunctions. Remained 30 babies had normal thyroid function, considered as euthyroid group. Iodine status was evaluated by measuring urinary iodine excretion. RESULTS: According to UIE, maternal iodine deficiency (55%) associated with neonatal iodine overload (65%) had came to attention. Although mean urinary iodine levels in both mother groups were similar, the mean urinary levels of borderline hypothyroidic and euthyroid groups were 432+/-129 microg/l and 271.5+/-137 microg/l, respectively. Iodine overload was also presence in newborn with normal thyroid function tests. CONCLUSION: We considered that individual sensitivity to iodine overload could make the differentiation on thyroid function. Iodine overload in important degree seen in borderline hypothyroidic babies emphasize the harmful effect of topical antiseptic iodine application that given to mothers during labor. This application could also mask possible prenatal iodine deficiency.

Cytokines as a common components of two different disorders: metabolic syndrome and hemophagocytic lymphohystiositosis.

Increased cytokines secretion occurs in several different disorders. Hemophagocytic lymphohystiositosis (HLH) and metabolic syndrome (MS) are consist two of them. Hemophagocytic lymphohystiositosis results from uncontrolled macrophage activation and huge amounts of cytokine secretion. The metabolic syndrome is a multicomponent condition characterized by insulin resistance, dyslipidemia, abdominal obesity, hypertension, and increased level of proinflammatory cytokines. It was presented a 6.8 years old girl, diagnosed as HLH. Because she was morbid obese, endocrinological investigation had been done and metabolic syndrome, thyroid hormone dysfunction, and hypercortisolemia with disturbances of diurnal rhythm were detected. During follow-up of patient, metabolic syndrome components disappear gradually while haemophagocytosis was recovered. Endocrine system can be affect during HLH attack, and MS can be developed. Cytokines seems to act central role of pathological changes for both diseases.