Precocious puberty: An experience from a major teaching hospital in Central Saudi Arabia.

Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay. A total of 62 patients were diagnosed with Precocious Puberty (PP); 43 had Central Precocious Puberty (CPP) while 19 had peripheral precocious puberty (PPP). The majority of girls with CPP (68%) had idiopathic PP, while pathological causes were found in (50%) of boys. The commonest cause of PPP was congenital adrenal hyperplasia (42%) and chronic hypothyroidism (26%). In conclusion, this study showed that precocious Puberty is a common endocrine problem in our center. The etiology of CPP was idiopathic in the majority of girls while it was caused by CNS pathology in most of the boys in this cohort. Peripheral precocious puberty is not that rare and mainly caused by congenital adrenal hyperplasia or hypothyroidism.

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia.

BACKGROUND: The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades. OBJECTIVE: To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia. MATERIALS AND METHODS: This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989-2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients. RESULTS: During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes. CONCLUSION: A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.

Radiological imaging of disorders of sex development (DSD).

The birth of a child with ambiguous genitalia is a matter of a medical and social emergency to decide the appropriate sex rearing and eventually to prevent the associated metabolic disturbances. It must be taken with immediacy and great sensitivity. The pediatric endocrinologist should share the care with a team consists of a pediatric urologist, or surgeon, a pediatric radiologist, geneticist and a child psychiatrist or psychologist who should work closely with the family. Ultrasonograpy is the primary modality for demonstrating internal organs while genitography is used to assess the uterus, vagina, and any fistulas or complex tracts. Magnetic resonance imaging (MRI) is used as an adjunct modality to assess the internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychological development of children with ambiguous genitalia.