• Publications
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Management of the Clinically Inapparent Adrenal Mass (Incidentaloma)
TLDR
Management of the Clinically Inapparent Adrenal Mass (Incidentaloma) was convened to explore and assess the current knowledge regarding adrenal incidentalomas, so that health care providers and the general public can make informed decisions about this important public health issue. Expand
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.
TLDR
A novel mutation in the CYP19 gene in a sister and brother exhibited the cardinal features of the aromatase deficiency syndrome as recently defined and was reported on. Expand
A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant.
  • M. Grumbach
  • Medicine
  • The Journal of clinical endocrinology and…
  • 1 May 2005
TLDR
The ontogenesis of infantile testicular function, including the possible significance of the infantile surge in gonadotropins and testosterone, is reviewed and the management and treatment of congenital hypopituitarism discussed. Expand
The Neuroendocrinology of Human Puberty Revisited
  • M. Grumbach
  • Medicine, Biology
  • Hormone Research in Paediatrics
  • 17 November 2004
TLDR
The weight of evidence supports the hypothesis that leptin acts as one of several permissive factors and not a trigger in the onset of human puberty, and provides a framework for the described classification of sexual precocity and delayed puberty. Expand
Syndrome of precocious menstruation and galactorrhea in juvenile hypothyroidism: an example of hormonal overlap in pituitary feedback
TLDR
It is postulated that the mechanism for the development of menorrhagia, galactorrhea, and pigmentation in these patients was an overlapping secretion of gonadotropin, mammotropic hormone, and (in 1 case) melanocyte-stimulating hormone along with the presumed high level of thyroid- Stimulating hormone. Expand
A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).
TLDR
The cardinal features of this syndrome are a consequence of P450arom deficiency, and the striking delay in bone age at 14 2/12 yr supports the notion that estrogens, in contrast to androgens, are the major sex steroid driving skeletal maturation during puberty. Expand
Estrogen: consequences and implications of human mutations in synthesis and action.
TLDR
Study of the mutations in CYP19, the gene encoding aromatase, in six females and two males and a mutant estrogen receptor alpha in a man provide illuminating new insights into the critical role of estrogen in the male in the pubertal growth spurt and skeletal maturation, and in the importance of estrogen sufficiency in the accrual and maintenance of bone mass. Expand
Idiopathic hypothalamic diabetes insipidus, pituitary stalk thickening, and the occult intracranial germinoma in children and adolescents.
TLDR
So-called "idiopathic" central diabetes insipidus warrants close follow-up to determine the etiology, especially if anterior pituitary hormone deficiencies are detected. Expand
Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency.
TLDR
The sex steroids are critically important in helping to establish peak bone mass for both sexes and the more bone mass one gains in the formative years, the less likely it is that increased bone resorption and decreased bone formation will result in osteoporosis. Expand
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