Long term outcome of genital reconstruction of middle eastern women with congenital adrenal hyperplasia

There is a paucity of data on the long-term outcome of genital reconstruction of female children with congenital adrenal hyperplasia [CAH] as they become adult women. We report on the surgical outcome general condition and marriage status We reviewed the medical records of women 20 years or older with CAH who had genital reconstruction. We interviewed married patients utilizing the female sexual function index [FSFI-6] questionnaire and compared them to age-matched controls. We identified 43 women with CAH with a median age of 24.2 +/- 3.9 years and a median follow-up of 23.4 +/- 4.6 years. Salt wasting and the severity of virilization affected most patients, parents were commonly cousins, children were reared as boys for a protracted period and surgical reconstruction was usually complex. Only five women had married. Compared with single women, married women had significantly more frequent normal menses, emergency hospital admissions and number of repeated reconstructive surgery. There was no significant difference in FSFI score between patients and controls. Four women conceived and three gave birth to one healthy child. There was no significant difference in the number of children between patients and controls. CAH has a significant impact on adult women in our region. Most of the patients remain single. Few women get married and these are able to lead a nearly normal sexual life and give birth to healthy children

Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency

The psychoendocrinology of the development of gender identity in patients with congenital adrenal hyperplasia [CAH] is poorly understood. Prenatal androgen exposure, postnatal hormonal influence, degree of external genitalia virilization, genital appearance, social rearing and other biological factors, are all thought to have an effect on gender identity development. [1-6] Late diagnosis and referral, which are common problems in our country, might have an adverse effect on normal gender identity development in female patients with CAH [7]. We describe two genetically female sisters with CAH secondary to 11-hydroxylase deficiency who were raised as boys and referred at the age of puberty to our clinic. We believe that the gender identity development in these two patients, who had the same medical and social background, was related to the extent of external genitalia virilization

syndrome of septo-optic dysplasia in Saudi children

To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism. All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both. The current age of patients ranged from 18- months to 5-years. The mean age of initial presentation for endocrine evaluation was 14-months. Hormonal studies indicated that all children had multiple pituitary hormone deficiencies [2 or more of the pituitary hormones were deficient]. Ten children had growth hormone deficiency, 8 had thyroid stimulating hormone deficiency, 8 had adrenocorticotrophic hormone deficiency, 2 children were suspected to have gonadotropin deficiency and central diabetes insipidus was present in one patient. Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable. Eight children had absent septum pellucidum, 3 had pituitary gland hypoplasia, 2 had pituitary stalk dysplasia [pituitary stalk was either attenuated or not visualized], 2 had absent corpus callosum and one had absent posterior pituitary high intensity signal. All patients were replaced with appropriate hormonal replacement therapy. Two male children had micropenis which responded to testosterone therapy. The syndrome of septo-optic dysplasia is commonly associated with hypothalamic hypopituitarism including anterior and posterior pituitary hormonal deficiencies. Early diagnosis of this syndrome is critical as the hormonal deficiencies can be life threatening

Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia

To examine the prevalence of celiac disease in young patients in the Kingdom of Saudi Arabia with type I diabetes mellitus. Semm gliadin immunoglobulin [Ig] A and reticulin IgA antibody determination was performed in 123 patients with type I diabetes mellitus attending the pediatric diabetic clinic at King Faisal Specialist Hospital and Research Centre, Kingdom of Saudi Arabia between 1995 and 1996. Elevated serum gliadin and reticulin IgA antibodies were found in the sera of 10 [8.1%] of the 123 diabetic children; none had gastrointestinal symptoms. Six of the 10 subjects hadjejunal biopsy, which showed total villus atrophy. Four subjects did not undergo jejunal biopsy. The gender ratio of the biopsy positive is 5 male: l female. All subjects with IgA positive were put on gluten free diet and normalized in a few months. The maximum prevalence of celiac disease in our population was 8.1% based on immunological marker and the minimum was 4.9% based on antibodies and biopsy results

Diabetes mellitus and cystic fibrosis in 2 Saudi siblings

Diabetes mellitus and cystic fibrosis [CF] have been reported before in the literature, but they have never been reported in the same patient in the Middle East. We present the first reported case of insulin dependent diabetes mellitus [IDDM] and CF in 2 siblings of the same family. Both siblings were diagnosed early in life with IDDM, and their diabetes was well controlled on insulin. Cystic fibrosis was diagnosed in the first case one year after IDDM was diagnosed due to history of chronic cough and in the 2nd case by family screening. Both had severe failure to thrive, recurrent chest infections and gastro-esophageal reflux. With treatment both showed clinical improvement, but continued to have moderate lung disease radiologically and by pulmonary function test