Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Background: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice.

Outcomes of adenotonsillectomy in patients with Prader-Willi syndrome.

Objective: To assess the efficacy of upper airway surgical intervention in patients with Prader-Willi syndrome (PWS). Due to reports of sudden death in children undergoing treatment with growth hormone for PWS, detection of sleep-disordered breathing by polysomnography (PSG) has been recommended.

Design: Retrospective study.

Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial.

Context: GH replacement in Prader-Willi syndrome (PWS) children has well-defined benefits and risks and is used extensively worldwide. Its use in PWS adults has been limited by documentation of benefits and risks, as determined by larger multisite studies.

Objectives: Our objective was to evaluate the effectiveness and safety of GH in GH-deficient genotype-positive PWS adults.

Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database).

Objective: To evaluate the response to recombinant GH treatment and adverse events in children with Prader-Willi syndrome (PWS) from KIGS, the Pfizer International Growth Database.

Patients: A total of 328 children (274 prepubertal, median age 6.0 years; 54 pubertal, median age 12.

Puberty-timing is everything!

Puberty is a dynamic period of physical growth, sexual maturation, and psychosocial achievement that generally begins between age 8 and 14 years. The age of onset varies as a function of sex, ethnicity, health status, genetics, nutrition, and activity level. Puberty is initiated by hormonal changes triggered by the hypothalamus.

Prader-Willi syndrome: the care and treatment of infants, children, and adults.

With appropriate intervention, the clinical course of children with PWS can be changed for the better. Individuals who have had the benefit of early diagnosis and treatment will have more normal (although generally still excessive) weight, less severe short stature, less persistent hypotonia, and significantly improved mobility and activity than would otherwise be possible. With proper care, the behavior problems, while significant, are manageable.