Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21-and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5α-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations is demanded. Ambiguous genitalia are a social and medical emergency.1,2 Sex assignment of the newborn is usually based on the external genitalia. If this is abnormal, it may be difficult to correctly assign the sex. An incorrect decision can lead to a major dilemma for the child, parents and other members of the family, friends and health personnel, who find themselves confused and in a difficult and unimaginable situation.3 In a community where this condition is. not uncommon, 1,4-7 health personnel will continue to face improperly sex-assigned children and young adults at different ages and circumstances. In this study, we retrospectively reviewed 30 cases in which sex reassignment was indicated. We also discuss the present Islamic guidelines regarding this matter and call for an urgent and unified national consensus, based on the basic scientific knowledge available and supported and approved by the existing Islamic recommendations. Material and MethodsThe medical records of 30 cases in whom sex reassignment was indicated, seen at King Khalid University Hospital (KKUH), Riyadh, over a 10-year period starting in September 1984, were analyzed. Genetic sex was based on chromosomal studies done on lymphocytes. Additional tests included genitogram and pelvic ultrasonography. Definitive etiological diagnosis was based on elevated 17 α-hydroxy, progesterone in 21-hydroxylase (P450C21) deficiency, elevated 11-deoxycortisone (compound S) in 11β-hydroxylase (P450C11) deficiency, elevated baseline and human chorionic gonadotropin (HCG) stimulated testosterone (T) to dihydrotestosterone (DHT) ratio in 5α-reductase deficiency and satisfactory penile length response to HCG and T in the presence of normal T/DHT ratio in partial androgen insensitivity (Figure 1). In view of the medical recommendation and the available Islamic guidelines, a final decision for the final diagnosis, outcome and recom...

Ambiguous genitalia represents a true medical and social emergency which needs a multi-disciplinary team approach for elucidation. The paediatric radiologist plays an important role in defining the genital anatomy which remains one of the most important factors in sex determination. Aiming to compare the predictive value of pelvic ultrasonography and genitography in sex determination in patients with ambiguous genitalia, we retrospectively reviewed the medical records of 69 patients, 53 females and 16 males, where both procedures were employed. In female pseudohermaphroditism, the presence of a uterus with or without vagina was predicted in 46 (86.8%) patients by ultrasound compared with 44 (83%) patients in whom a genitogram revealed a vagina +/- uterus. In six (11.3%) patients, a genitogram revealed a male-type urethra. The combination of ultrasound and genitogram, however, was more sensitive and predicted the presence of a uterus with or without vagina in 52 (98.1%) patients. In male pseudo-hermaphroditism, there was no false positive by ultrasound, and a genitogram revealed a male-type urethra in 12 (75%) patients. In conclusion, although real time pelvic ultrasonography is less invasive than genitography, its yield in elucidating genital anatomy is comparable. The combination of both procedures is more informative and has a better yield.

An 11.5-year-old boy presented with recurrent attacks of hypoglycaemic coma. Endocrine investigations indicated adrenocortical insufficiency secondary to isolated ACTH deficiency, low ACTH and cortisol plasma levels with normal secretory reserve of other anterior pituitary hormones. The absence of ACTH response after corticotropin releasing factor and insulin-induced hypoglycaemia suggested a failure of primary pituitary ACTH-secreting cells. Among other hormone-secreting cells, pituitary cell circulating antibodies were negative. CT scan and MRI failed to reveal any anatomical abnormality of the sella or suprasellar area.

Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10,000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because of high consanguineous marriages.

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