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A. Bone age study suitable for 6 years 10 months old. B. Pelvic ultrasound. Uterine identified (arrow). C. Chromosomal study (XX, 46).
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Objective: our objective was to display the presentation of simple virilizing Congenital Adrenal Hyperplasia (CAH) with genital ambiguity and severe virilization of the external genitalia, influencing growth, height and weight, bone maturation, quality of life and hence undergoing genitoplasty. Surgical treatment was aimed to obtain a more natural...
Citations
... SV CAH patients present hypocortisolism and simple virilisation. Furthermore, in the perinatal period, newborn female foetuses may present ambiguous genitalia without overt salt loss in affected females ( Table 2) [19]. Virilization can be classified according to the Prader Stages scale, which ranges from 1 to 5, with Stage 5 being the most severe. ...
... Individuals with the classic form of CAH present a marked increase in serum 17-OHP, with values greater than 100 ng/ mL, without an increase in 11-deoxycortisol and with a less marked increase in basal dehydroepiandrosterone and testosterone [14]. In patients presenting a SW form, there is also an increase in plasma renin activity, and manifestations such as hyponatremia and hyperkalemia [19]. CAH carriers frequently present normal basal 17-OHP levels and diagnostic strategy involves stimulation with synthetic ACTH with subsequent hormone measurement after 60 minutes. ...
Congenital adrenal hyperplasia (CAH) consists of a group of autosomal recessive disorders resulting from enzymatic defects in steroidogenesis. More than 95% of CAH cases result from a deficiency of the 21-hydroxylase enzyme, which leads to cortisol deficiency, with or without aldosterone insufficiency, and also an excess of androgen. The clinical spectrum varies from milder symptoms to severe cases settled by the functional impairment of the corresponding pathogenic variant in the CYP21A2 gene. The two major forms of CAH caused by 21-hydroxylase deficiency are the classical form and the non-classic, or late onset form. There are two subtypes of the classic form: salt wasting and simple virilized. Diagnosis is clinically confirmed by 17OH-progesterone measurements, although genotyping is now progressively assuming an essential role for characterising patients. Genotyping is sometimes challenging, due to the existence of the highly homologous CYP21A1P pseudogene. The 21-hydroxylase enzyme is encoded by the CYP21A2 gene, where most of the pathogenic variants defects are due to meiotic recombination phenomena events between the CYP21A2 and CYP21A1P. Complete gene analysis is recommended to obtain a correct diagnosis and a better understanding of the underlying mechanisms of the disease in patients with CAH, and is relevant for prognosis and for prescribing the appropriate type of genetic counselling.
... Diagnosis is established usually in the neonatal period, through clinical presentation, determination of hormonal status, genital examination, abdominal and pelvic ultrasonography and demonstration of genetic defect of the corresponding enzyme. [1][2][3][4]. Very few fields in surgical reconstruction are so challenging and controversial as genital reconstruction in virilized patients. In these patients, it is necessary to make feminizing genital surgery, which aims at reconstruction of the female external genitalia, because these patients have the potential for normal sexual function and fertility. ...
... Patients with CAH in cases of moderate to major stress, such as fever, trauma, surgery and general anesthesia need a stress dose of steroids. With proper treatment fertility in women with CAH is between 60-90% [1][2][3][4]. There are several types of surgery for genital reconstruction, which is always modified according to the individual anatomy of the patient. ...
Introduction. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. In approximately 90-95% of the CAH cases, it is a deficiency of the enzyme steroid 21-hydroxylase. The degree of enzyme insufficiency determines the severity of the disease. In the simple virilizing type of CAH dominant symptoms are virilization in girls and precocious puberty in boys. Virilizing type of CAH is the most common etiology of ambiguous genitalia in women. There are several options for surgical reconstruction of such anomalies, which must always be optimized to the patient’s anatomy, to achieve a good esthetic and functional result.
Detailed presentation of the case. The paper presents the case of a 36-year old woman with delayed pediatric diagnosis of simple virilizing type of CAH, due to deficiency of 21-hydroxylase, pronounced phenotypic virilization, clitoromegaly, hyperpigmentation of the external genitalia, vaginal hypoplasia and existence of low confluence of the urethra with the vagina in so called low type of urogenital sinus andbilateral micromastia, also called mammary hypoplasia. The patient underwent augmention mammoplasty, clitoroplasty, reduction of clitoral hood and proximal labioplasty.
Discussion. CAH is a continuum of disorders, affecting patients throughout the life. Feminizing genitoplasty includes three parts: clitoroplasty, labioplasty and vaginoplasty. Clitorectomy in modern times is unacceptable option.
Conclusion. Surgical management and reconstruction in women with simple virilizing type CAH and ambiguous genitalia remains still controversial and emotionally laden area in reconstructive surgical activity and requires a team approach.
Introduction. Between 2.8-18.7% of patients that suffer from spontaneous intracerebral hemorrhage (ICH) develop seizures. Previous studies suggest that the most important factors for developing subsequent seizures are: volume and localization of hematoma, cortical involvement and age. Aims: To determine the occurrence of new epileptic seizures in patients with spontaneous intracerebral hemorrhage and to analyze it with respect to patient‟s age, gender, presence of premorbid risk factors, localization of the hematoma and type of the seizures.
Methods. This is a retrospective study in design, comprising a sample of 308 patients with spontaneous intracerebral hemorrhage admitted the University Clinic for Neurology in the period between 2008 and 2014. The following premorbid risk factors for ICH were analyzed: hypertension, smoking, alcohol consumption. According to computer tomography (CT) of the brain patients were divided in two groups: lobar and thalamic (deep). According to the time of manifestation of seizures, they were classified as early (within 1 week of ICH) or late (more than 1 week after ICH). Also we analyzed seizure type and we divided them in four groups: simple partial, partial complex, secondary generalized and tonic clonic generalized seizures.
Results. Arterial hypertension was revealed in 78% of patients with spontaneous supratentorial ICH. Epi-leptic seizures developed in 8.2% of analyzed patients, most of them in the first week of brain bleeding. Lobar ICH had 78.6% of patients, with frontal localization in 44% of patients with lobar ICH, and most of them had simple partial and partial complex seizures.
Conclusion. Cortical involvement, large volume of hema-toma, may be a factor for provoked seizures, especially in the first days of brain bleeding.
